R83G (p.Arg83Gly) variant of GBA1 (P04062)
R83G (p.Arg83Gly) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R83G (p.Arg83Gly) variant details
- p.Arg83Gly
- ESP rs1141812
- ExAC rs1141812
- TOPMed rs1141812
- gnomAD rs1141812
- Uncertain significance
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (Gaucher disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available