S28F (p.Ser28Phe) variant of HLA-C (P10321)
S28F (p.Ser28Phe) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- ExAC rs11547360
- gnomAD rs11547360
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available