H252R (p.His252Arg) variant of HLA-DQB1 (P01920)
H252R (p.His252Arg) 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 0.28 / 1. The record also includes population frequency data and structural context.
H252R (p.His252Arg) variant details
- p.His252Arg
- rs1140342
- cosmic curated COSV66569
- UniProt VAR 062756
- 1000Genomes rs1140342
- 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 0.282
- AlphaMissense 0.18
- MetaLR 0.00
- MetaSVM -1.15
- PolyPhen-2 0.47
- SIFT 0.01
- MutPred 0.51
- 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