Report


This variant from GLY to SER occurring at position 217 of gene CCT5 (UniProd Id P48643 and Ensembl transcript Id ENST00000280326) and mapped on the PDB, PDB Id 5uyx_B, is predicted structurally Damaging by Missense3D [1] (structural features disrupted: Disallowed phi/psi;  Gly in a bend).

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

This variant identified by the dbSNP Id rs201804455, has a minor allele frequency (MAF) of 0.0002722 according to the gnomAD database. It occurs in a chromosome region, which has a percentile conservation score (CCR) of 74. 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 1.0 and RVIS score [4] of -0.61 (24.0%)


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:
	Disallowed phi/psi: The mutant residue is in outlier region while the wild-type residue is in the favoured or allowed region.  
	Gly in a bend: The wild-type residue is glycine and is located in a bend curvature (reported 'S' in DSSP).