R162Q (p.Arg162Gln) variant of HLA-DQB1 (P01920)
R162Q (p.Arg162Gln) 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*03:22, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R162Q (p.Arg162Gln) variant details
- p.Arg162Gln
- rs41544112
- cosmic curated COSV66574
- UniProt VAR 062742
- 1000Genomes rs41544112
- Benign
- in allele DQB1*03:22, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- CADD 10.80
- PolyPhen-2 0.04
- SIFT 0.08
- EBI: Benign (in allele DQB1*03:22, allele DQB1*06:04, allele DQB1*06:09, alle)
- UniProt: Benign (in allele DQB1*03:22, allele DQB1*06:04, allele DQB1*06:09, alle)
- Most common in the HGDP:SAN population (allele frequency 0.42)
- Structural context available