G5E (p.Gly5Glu) variant of RYR3 (Ryanodine receptor 3)
G5E (p.Gly5Glu) 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 Epileptic encephalopathy. The record also includes variant effect predictions and population frequency data.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- rs771419772
- ClinGen CA391916622
- ClinVar RCV001303620
- ExAC rs771419772
- Uncertain significance
- Epileptic encephalopathy
- Missense
- MetaLR 0.84
- MetaSVM 0.68
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.69
- ClinVar: Uncertain significance (Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)