F114L (p.Phe114Leu) variant of GBA1 (P04062)
F114L (p.Phe114Leu) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
F114L (p.Phe114Leu) variant details
- p.Phe114Leu
- gnomAD rs1353986824
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.69
- CADD 23.90
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available