L17V (p.Leu17Val) variant of HLA-C (P10321)
L17V (p.Leu17Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- Ensembl rs1761427731
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available