T109R (p.Thr109Arg) variant of HLA-DQB1 (P01920)
T109R (p.Thr109Arg) 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*02:03, allele DQB1*02:04, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T109R (p.Thr109Arg) variant details
- p.Thr109Arg
- rs1130392
- cosmic curated COSV66569
- UniProt VAR 062730
- 1000Genomes rs1130392
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.11
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- Most common in the HGDP:NAXI population (allele frequency 0.75)
- Structural context available