G4E (p.Gly4Glu) variant of RYR3 (Ryanodine receptor 3)
G4E (p.Gly4Glu) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- cosmic curated COSV66802
- ESP rs375998723
- ExAC rs375998723
- TOPMed rs375998723
- Uncertain significance
- not specified
- Missense
- MetaLR 0.80
- MetaSVM -0.02
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)