F43L (p.Phe43Leu) variant of HLA-DQB1 (P01920)
F43L (p.Phe43Leu) 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*06:33. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- rs56173496
- UniProt VAR 062691
- ExAC rs56173496
- gnomAD rs56173496
- Benign
- in allele DQB1*06:33
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.47
- EBI: Benign (in allele DQB1*06:33)
- UniProt: Benign (in allele DQB1*06:33)
- Most common in the Non-Finnish European population (allele frequency 4.9e-05)
- Structural context available
- Literature evidence available