A2V (p.Ala2Val) variant of HLA-A (P04439)
A2V (p.Ala2Val) in HLA-A (P04439) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs200058378
- Ensembl rs200058378
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.15
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available