L12R (p.Leu12Arg) variant of HLA-C (P10321)
L12R (p.Leu12Arg) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- Ensembl rs2113916648
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available