G12D (p.Gly12Asp) variant of HLA-DQB1 (P01920)
G12D (p.Gly12Asp) 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*06:02 and allele DQB1*06:12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs1049057
- UniProt VAR 062679
- 1000Genomes rs1049057
- ESP rs1049057
- Benign
- in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and a)
- UniProt: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and a)
- Structural context available
- Literature evidence available