A8P (p.Ala8Pro) variant of HLA-C (P10321)
A8P (p.Ala8Pro) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- 1000Genomes rs2308525
- ESP rs2308525
- ExAC rs2308525
- gnomAD rs2308525
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.21
- CADD 14.20
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available