M4V (p.Met4Val) variant of HLA-A (P04439)
M4V (p.Met4Val) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
M4V (p.Met4Val) variant details
- p.Met4Val
- cosmic curated COSV65136
- 1000Genomes rs79326316
- ExAC rs79326316
- gnomAD rs79326316
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.12
- CADD 4.58
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the HGDP:KARITIANA population (allele frequency 0.5)
- Structural context available