A8S (p.Ala8Ser) variant of HLA-C (P10321)
A8S (p.Ala8Ser) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- 1000Genomes rs2308525
- ESP rs2308525
- ExAC rs2308525
- gnomAD rs2308525
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.16
- CADD 6.62
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 2.7e-05)
- Structural context available