S48T (p.Ser48Thr) variant of HLA-C (P10321)
S48T (p.Ser48Thr) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S48T (p.Ser48Thr) variant details
- p.Ser48Thr
- 1000Genomes rs707911
- ExAC rs707911
- gnomAD rs707911
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.24
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available