H253Q (p.His253Gln) variant of HLA-DQB1 (P01920)
H253Q (p.His253Gln) 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*06:01, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H253Q (p.His253Gln) variant details
- p.His253Gln
- rs1140343
- cosmic curated COSV66569
- UniProt VAR 062757
- 1000Genomes rs1140343
- Benign
- in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.26
- 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)
- Population evidence available
- Structural context available