A45G (p.Ala45Gly) variant of HLA-DQB1 (P01920)
A45G (p.Ala45Gly) 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*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes published literature and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- rs1130375
- UniProt VAR 061472
- 1000Genomes rs1130375
- ESP rs1130375
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- AlphaMissense 0.13
- MetaLR 0.00
- MetaSVM -1.31
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- Structural context available
- Cited in: Complete sequence of the HLA DQ alpha and DQ beta cDNA from a DR5/DQw3 cell line. (PMID 3584986)