R165Q (p.Arg165Gln) variant of HLA-DQB1 (P01920)
R165Q (p.Arg165Gln) 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*06:38. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R165Q (p.Arg165Gln) variant details
- p.Arg165Gln
- rs9273989
- cosmic curated COSV10089
- UniProt VAR 062744
- ExAC rs9273989
- Benign
- in allele DQB1*06:38
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.11
- CADD 22.40
- PolyPhen-2 0.19
- SIFT 0.04
- EBI: Benign (in allele DQB1*06:38)
- UniProt: Benign (in allele DQB1*06:38)
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available