R78L (p.Arg78Leu) variant of GBA1 (P04062)
R78L (p.Arg78Leu) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- ExAC rs752857428
- TOPMed rs752857428
- gnomAD rs752857428
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available