L12V (p.Leu12Val) variant of HLA-A (P04439)
L12V (p.Leu12Val) in HLA-A (P04439) 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, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD 6-29942587-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- CADD 20.00
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available