H199R (p.His199Arg) variant of HLA-DQB1 (P01920)
H199R (p.His199Arg) 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*03:02, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H199R (p.His199Arg) variant details
- p.His199Arg
- rs701564
- cosmic curated COSV66569
- UniProt VAR 062748
- 1000Genomes rs701564
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*03:02, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.15
- 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)
- Population evidence available
- Structural context available
- Cited in: Complete sequence of the HLA DQ alpha and DQ beta cDNA from a DR5/DQw3 cell line. (PMID 3584986)