I47L (p.Ile47Leu) variant of HLA-C (P10321)
I47L (p.Ile47Leu) 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.
I47L (p.Ile47Leu) variant details
- p.Ile47Leu
- gnomAD rs1384097655
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.12
- CADD 6.01
- PolyPhen-2 0.29
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available