Q168E (p.Gln168Glu) variant of HLA-DQB1 (P01920)
Q168E (p.Gln168Glu) 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*02:04. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q168E (p.Gln168Glu) variant details
- p.Gln168Glu
- rs9273981
- UniProt VAR 062746
- ExAC rs9273981
- gnomAD rs9273981
- Benign
- in allele DQB1*02:04
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- CADD 19.90
- PolyPhen-2 0.28
- SIFT 0.03
- EBI: Benign (in allele DQB1*02:04)
- UniProt: Benign (in allele DQB1*02:04)
- Most common in the Non-Finnish European population (allele frequency 8.6e-05)
- Structural context available