P44S (p.Pro44Ser) variant of HLA-C (P10321)
P44S (p.Pro44Ser) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- ExAC rs780748676
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- CADD 20.80
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 4.5e-05)
- Structural context available