E43Q (p.Glu43Gln) variant of HLA-DPB1 (P04440)
E43Q (p.Glu43Gln) in HLA-DPB1 (P04440) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- ExAC rs749490757
- gnomAD rs749490757
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.16
- CADD 21.50
- PolyPhen-2 0.79
- SIFT 0.14
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available