I47V (p.Ile47Val) variant of HLA-C (P10321)
I47V (p.Ile47Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I47V (p.Ile47Val) variant details
- p.Ile47Val
- gnomAD rs1384097655
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.11
- CADD 7.67
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available