G40S (p.Gly40Ser) variant of HLA-C (P10321)
G40S (p.Gly40Ser) in HLA-C (P10321) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele C*02:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G40S (p.Gly40Ser) variant details
- p.Gly40Ser
- rs151341100
- UniProt VAR 082420
- 1000Genomes rs151341100
- ESP rs151341100
- Benign
- in allele C*02:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.00
- EBI: Benign (in allele C*02:02)
- UniProt: Benign (in allele C*02:02)
- Most common in the REMAINING population (allele frequency 0.007)
- Structural context available
- Cited in: Diversity and diversification of HLA-A,B,C alleles. (PMID 2715640)