V148I (p.Val148Ile) variant of HLA-DQB1 (P01920)
V148I (p.Val148Ile) 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 0.24 / 1. The record also includes population frequency data and structural context.
V148I (p.Val148Ile) variant details
- p.Val148Ile
- rs1049100
- UniProt VAR 056571
- 1000Genomes rs1049100
- ESP rs1049100
- Benign
- in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.12
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.08
- 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:LAHU population (allele frequency 0.75)
- Structural context available