D89A (p.Asp89Ala) variant of HLA-DQB1 (P01920)
D89A (p.Asp89Ala) 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*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*02:05, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D89A (p.Asp89Ala) variant details
- p.Asp89Ala
- rs1071637
- cosmic curated COSV66572
- UniProt VAR 062713
- UniProt VAR 062715
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*02:05, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, alle)
- Most common in the HGDP:MAYA population (allele frequency 0.7)
- Structural context available
- Literature evidence available