I235V (p.Ile235Val) variant of HLA-DQB1 (P01920)
I235V (p.Ile235Val) 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*06:02, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
I235V (p.Ile235Val) variant details
- p.Ile235Val
- rs1049163
- UniProt VAR 062755
- 1000Genomes rs1049163
- ExAC rs1049163
- Benign
- in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:02, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.13
- MetaLR 0.00
- MetaSVM -1.17
- PolyPhen-2 0.65
- SIFT 0.00
- MutPred 0.33
- 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)
- Structural context available