L9V (p.Leu9Val) variant of HLA-C (P10321)
L9V (p.Leu9Val) 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.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- ExAC rs751484302
- gnomAD rs751484302
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- CADD 19.80
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available