R83L (p.Arg83Leu) variant of GBA1 (P04062)
R83L (p.Arg83Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R83L (p.Arg83Leu) variant details
- p.Arg83Leu
- ExAC rs765182795
- TOPMed rs765182795
- gnomAD rs765182795
- Pathogenic/Likely pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gaucher disease)
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available