G4A (p.Gly4Ala) variant of RYR3 (Ryanodine receptor 3)
G4A (p.Gly4Ala) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Congenital myopathy 20; Epileptic encephalopathy. The record also includes variant effect predictions and population frequency data.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- rs375998723
- ClinGen CA7457630
- ClinVar RCV001063110
- ClinVar RCV003492216
- Conflicting interpretations
- not specified; Congenital myopathy 20; Epileptic encephalopathy
- Missense
- MetaLR 0.78
- MetaSVM -0.10
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Congenital myopathy 20; Epileptic encephalopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00049)