D89V (p.Asp89Val) variant of HLA-DQB1 (P01920)
D89V (p.Asp89Val) 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*05:01, allele DQB1*06:04, allele DQB1*06:05, allele DQB1*06:06, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D89V (p.Asp89Val) variant details
- p.Asp89Val
- rs1071637
- UniProt VAR 062715
- Benign
- in allele DQB1*05:01, allele DQB1*06:04, allele DQB1*06:05, allele DQB1*06:06, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.27
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Benign (in allele DQB1*05:01, allele DQB1*06:04, allele DQB1*06:05, alle)
- UniProt: Benign (in allele DQB1*05:01, allele DQB1*06:04, allele DQB1*06:05, alle)
- Most common in the 1KG:GWD population (allele frequency 0.42)
- Structural context available