V78E (p.Val78Glu) variant of HLA-DQB1 (P01920)
V78E (p.Val78Glu) 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*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V78E (p.Val78Glu) variant details
- p.Val78Glu
- rs9274398
- UniProt VAR 062704
- 1000Genomes rs9274398
- ExAC rs9274398
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.10
- CADD 8.83
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- Most common in the HGDP:SINDHI population (allele frequency 0.17)
- Structural context available
- Literature evidence available