S14W (p.Ser14Trp) variant of HLA-C (P10321)
S14W (p.Ser14Trp) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S14W (p.Ser14Trp) variant details
- p.Ser14Trp
- ExAC rs766595242
- gnomAD rs766595242
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.15
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00034)
- Structural context available