A157G (p.Ala157Gly) variant of HLA-DQB1 (P01920)
A157G (p.Ala157Gly) 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*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
A157G (p.Ala157Gly) variant details
- p.Ala157Gly
- rs1063322
- UniProt VAR 062739
- 1000Genomes rs1063322
- ExAC rs1063322
- Benign
- in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.62
- EBI: Benign (in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, alle)
- UniProt: Benign (in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, alle)
- Structural context available