E6G (p.Glu6Gly) variant of RYR3 (Ryanodine receptor 3)
E6G (p.Glu6Gly) 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; Epileptic encephalopathy. The record also includes variant effect predictions and population frequency data.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- rs562147027
- ClinGen CA7457634
- ClinVar RCV001429156
- ClinVar RCV004025506
- Conflicting interpretations
- not specified; Epileptic encephalopathy
- Missense
- MetaLR 0.76
- MetaSVM 0.66
- CADD 24.10
- PolyPhen-2 0.06
- SIFT 0.83
- ClinVar: Conflicting classifications of pathogenicity (not specified; Epileptic encephalopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MIAO population (allele frequency 0.05)