Report


This variant from CYS to ARG occurring at position 284 of gene CD248 (UniProd Id Q9HCU0 and Ensembl transcript Id ENST00000311330) and mapped on the MODEL, PDB Id 6B0H_J, is predicted structurally Damaging by Missense3D [1] (structural features disrupted: Disulphide breakage;  Buried hydrophilic introduced;  Buried charge introduced).

This variant has the following phenotypic annotations: ClinVar: -, Humsavar: -

This variant identified by the dbSNP Id rs558286010, has a minor allele frequency (MAF) of 4.122e-06 according to the gnomAD database. It occurs in a chromosome region, which has a percentile conservation score (CCR) of 20. Regions above the 95th percentile are considered constrained and less likely to tolerate variations [2]. The gene in which this variant occurs has a PLi score [3] of 0.54 and RVIS score [4] of 1.09 (88.0%)


References:
	1. J Mol Biol 2019 May 17;431(11):2197-2212. doi: 10.1016/j.jmb.2019.04.009
	2. Nat Genet 2019 Jan;51(1):88-95. doi: 10.1038/s41588-018-0294-6
	3. Nucleic Acids Res 2017 Jan 4;45(D1):D840-D845. doi: 10.1093/nar/gkw971
	4. PLoS Genet 2013;9(8):e1003709. doi: 10.1371/journal.pgen.1003709.


Structural features explanation:
	Disulphide breakage: The substitution breaks a disulphide bond that was in the wild-type. The maximum S-S length for the bond is 3.3 
	Buried hydrophilic introduced: The substitution replaces a buried hydrophobic residue with a hydrophilic residue. 
	Buried charge introduced: The substitution replaces a buried uncharged residue with a charged residue.