S95R (p.Ser95Arg) variant of HLA-DQB1 (P01920)
S95R (p.Ser95Arg) 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*03:15. 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.
S95R (p.Ser95Arg) variant details
- p.Ser95Arg
- rs41556215
- UniProt VAR 062718
- gnomAD rs41556215
- Benign
- in allele DQB1*03:15
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.17
- CADD 16.30
- PolyPhen-2 0.05
- SIFT 0.11
- EBI: Benign (in allele DQB1*03:15)
- UniProt: Benign (in allele DQB1*03:15)
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available