Y62H (p.Tyr62His) variant of HLA-DQB1 (P01920)
Y62H (p.Tyr62His) 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*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
Y62H (p.Tyr62His) variant details
- p.Tyr62His
- rs281862065
- cosmic curated COSV66574
- UniProt VAR 062697
- 1000Genomes rs281862065
- Benign
- in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.0543
- REVEL 0.02
- CADD 5.54
- PolyPhen-2 0.01
- SIFT 0.23
- EBI: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, alle)
- UniProt: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, alle)
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.68)
- Structural context available
- Literature evidence available