S48P (p.Ser48Pro) variant of HLA-C (P10321)
S48P (p.Ser48Pro) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- 1000Genomes rs707911
- ExAC rs707911
- gnomAD rs707911
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.28
- CADD 4.76
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available