R2L (p.Arg2Leu) variant of HLA-C (P10321)
R2L (p.Arg2Leu) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- 1000Genomes rs772484756
- ExAC rs772484756
- gnomAD rs772484756
- Missense
- Variant Prioritization Score for Impact Estimate 0.068
- REVEL 0.02
- CADD 9.58
- PolyPhen-2 0.04
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 4.1e-05)
- Structural context available