F46V (p.Phe46Val) variant of HLA-C (P10321)
F46V (p.Phe46Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F46V (p.Phe46Val) variant details
- p.Phe46Val
- ExAC rs281860341
- gnomAD rs281860341
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available