S14L (p.Ser14Leu) variant of HLA-C (P10321)
S14L (p.Ser14Leu) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- ExAC rs766595242
- gnomAD rs766595242
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- CADD 20.00
- PolyPhen-2 0.99
- SIFT 0.11
- Population evidence available
- Structural context available