E118A (p.Glu118Ala) variant of HLA-DQB1 (P01920)
E118A (p.Glu118Ala) 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 0.25 / 1. The record also includes structural context.
E118A (p.Glu118Ala) variant details
- p.Glu118Ala
- rs9274380
- cosmic curated COSV66570
- UniProt VAR 062733
- UniProt VAR 062734
- 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 0.253
- AlphaMissense 0.22
- MetaLR 0.00
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 1.00
- 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