R102G (p.Arg102Gly) variant of HLA-DQB1 (P01920)
R102G (p.Arg102Gly) 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*03:08, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
R102G (p.Arg102Gly) variant details
- p.Arg102Gly
- rs1130386
- cosmic curated COSV66569
- UniProt VAR 062723
- 1000Genomes rs1130386
- Benign
- in allele DQB1*03:08, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.24
- EBI: Benign (in allele DQB1*03:08, allele DQB1*05:01, allele DQB1*05:02, alle)
- UniProt: Benign (in allele DQB1*03:08, allele DQB1*05:01, allele DQB1*05:02, 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)