Q256R (p.Gln256Arg) variant of HLA-DQB1 (P01920)
Q256R (p.Gln256Arg) 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 and allele DQB1*05:03. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q256R (p.Gln256Arg) variant details
- p.Gln256Arg
- rs1130432
- UniProt VAR 061474
- 1000Genomes rs1130432
- ESP rs1130432
- Benign
- in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.11
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Benign (in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03)
- UniProt: Benign (in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03)
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.68)
- Structural context available