E43K (p.Glu43Lys) variant of HLA-DPB1 (P04440)
E43K (p.Glu43Lys) in HLA-DPB1 (P04440) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- gnomAD 6-33080698-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available