V59L (p.Val59Leu) variant of HLA-DQB1 (P01920)
V59L (p.Val59Leu) 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*03:18. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- rs41563539
- UniProt VAR 062695
- ESP rs41563539
- ExAC rs41563539
- Benign
- in allele DQB1*03:18
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.12
- CADD 7.84
- PolyPhen-2 0.07
- SIFT 0.60
- EBI: Benign (in allele DQB1*03:18)
- UniProt: Benign (in allele DQB1*03:18)
- Most common in the Non-Finnish European population (allele frequency 4.4e-06)
- Structural context available
- Literature evidence available