A227A (p.Ala227Ala) variant of HLA-DQB1 (P01920)
A227A (p.Ala227Ala) in HLA-DQB1 (P01920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A227A (p.Ala227Ala) variant details
- p.Ala227Ala
- gnomAD 6-32660860-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available