Y41F (p.Tyr41Phe) variant of HLA-DQB1 (P01920)
Y41F (p.Tyr41Phe) 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*04:01, allele DQB1*04:02, allele DQB1*04:03, allele DQB1*06:02, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
Y41F (p.Tyr41Phe) variant details
- p.Tyr41Phe
- rs9274407
- UniProt VAR 062689
- 1000Genomes rs9274407
- ESP rs9274407
- Benign
- in allele DQB1*04:01, allele DQB1*04:02, allele DQB1*04:03, allele DQB1*06:02, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.35
- MetaLR 0.02
- MetaSVM -0.59
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.26
- EBI: Benign (in allele DQB1*04:01, allele DQB1*04:02, allele DQB1*04:03, alle)
- UniProt: Benign (in allele DQB1*04:01, allele DQB1*04:02, allele DQB1*04:03, alle)
- Structural context available
- Literature evidence available