V52E (p.Val52Glu) variant of HLA-C (P10321)
V52E (p.Val52Glu) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V52E (p.Val52Glu) variant details
- p.Val52Glu
- Ensembl rs2113914917
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.28
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available