L12R (p.Leu12Arg) variant of HLA-A (P04439)
L12R (p.Leu12Arg) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 6-29942588-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.22
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available