G258E (p.Gly258Glu) variant of HLA-DQB1 (P01920)
G258E (p.Gly258Glu) in HLA-DQB1 (P01920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G258E (p.Gly258Glu) variant details
- p.Gly258Glu
- rs1181850262
- gnomAD 6-32660249-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.21
- CADD 25.20
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available