R165W (p.Arg165Trp) variant of HLA-DQB1 (P01920)
R165W (p.Arg165Trp) 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*03:21. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R165W (p.Arg165Trp) variant details
- p.Arg165Trp
- rs63626961
- cosmic curated COSV10531
- UniProt VAR 062743
- ExAC rs63626961
- Benign
- in allele DQB1*03:21
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.12
- CADD 23.80
- PolyPhen-2 0.44
- SIFT 0.01
- EBI: Benign (in allele DQB1*03:21)
- UniProt: Benign (in allele DQB1*03:21)
- Most common in the Latino/Admixed American population (allele frequency 0.00032)
- Structural context available