Y69D (p.Tyr69Asp) variant of HLA-DQB1 (P01920)
Y69D (p.Tyr69Asp) 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*06:01 and allele DQB1*06:35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Y69D (p.Tyr69Asp) variant details
- p.Tyr69Asp
- rs281874782
- cosmic curated COSV66573
- UniProt VAR 062699
- 1000Genomes rs281874782
- Benign
- in allele DQB1*06:01 and allele DQB1*06:35
- Missense
- Variant Prioritization Score for Impact Estimate 0.0928
- REVEL 0.11
- CADD 2.02
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Benign (in allele DQB1*06:01 and allele DQB1*06:35)
- UniProt: Benign (in allele DQB1*06:01 and allele DQB1*06:35)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available