A81V (p.Ala81Val) variant of HLA-DQB1 (P01920)
A81V (p.Ala81Val) in HLA-DQB1 (P01920) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DQB1*03:07. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- rs41558214
- UniProt VAR 062706
- gnomAD rs41558214
- Benign
- in allele DQB1*03:07
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.25
- CADD 24.00
- PolyPhen-2 0.66
- SIFT 0.01
- EBI: Benign (in allele DQB1*03:07)
- UniProt: Benign (in allele DQB1*03:07)
- Population evidence available
- Structural context available
- Literature evidence available