D167G (p.Asp167Gly) variant of HLA-DQB1 (P01920)
D167G (p.Asp167Gly) 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*02:02. 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.
D167G (p.Asp167Gly) variant details
- p.Asp167Gly
- rs2647032
- UniProt VAR 062745
- 1000Genomes rs2647032
- ExAC rs2647032
- Benign
- in allele DQB1*02:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.19
- CADD 2.42
- PolyPhen-2 0.04
- SIFT 1.00
- EBI: Benign (in allele DQB1*02:02)
- UniProt: Benign (in allele DQB1*02:02)
- Most common in the HGDP:UYGUR population (allele frequency 0.3)
- Structural context available