V99D (p.Val99Asp) variant of HLA-DQB1 (P01920)
V99D (p.Val99Asp) 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*03:13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V99D (p.Val99Asp) variant details
- p.Val99Asp
- rs41563814
- UniProt VAR 062720
- 1000Genomes rs41563814
- ExAC rs41563814
- Benign
- in allele DQB1*03:13
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.02
- EBI: Benign (in allele DQB1*03:13)
- UniProt: Benign (in allele DQB1*03:13)
- Most common in the 1KG:KHV population (allele frequency 0.0052)
- Structural context available