T172A (p.Thr172Ala) variant of HLA-DQB1 (P01920)
T172A (p.Thr172Ala) 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*02:04, allele DQB1*05:01, 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.
T172A (p.Thr172Ala) variant details
- p.Thr172Ala
- rs1063323
- cosmic curated COSV66571
- UniProt VAR 062747
- 1000Genomes rs1063323
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*05:01, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, alle)
- Structural context available
- Cited in: Initial characterization of the human central proteome. (PMID 21269460)