E43K (p.Glu43Lys) variant of HLA-C (P10321)
E43K (p.Glu43Lys) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- ExAC rs1050438
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.20
- CADD 20.60
- PolyPhen-2 0.36
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available