Y79F (p.Tyr79Phe) variant of HLA-DQB1 (P01920)
Y79F (p.Tyr79Phe) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
Y79F (p.Tyr79Phe) variant details
- p.Tyr79Phe
- rs9274397
- UniProt VAR 062705
- ExAC rs9274397
- gnomAD rs9274397
- 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 0.0649
- REVEL 0.06
- CADD 0.01
- PolyPhen-2 0.04
- 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:BALOCHI population (allele frequency 0.15)
- Structural context available
- Literature evidence available