I47S (p.Ile47Ser) variant of HLA-C (P10321)
I47S (p.Ile47Ser) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I47S (p.Ile47Ser) variant details
- p.Ile47Ser
- Ensembl rs1761398721
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0011)
- Structural context available