D10E (p.Asp10Glu) variant of RYR3 (Ryanodine receptor 3)
D10E (p.Asp10Glu) 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; not provided. The record also includes variant effect predictions and population frequency data.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- rs761390620
- ClinGen CA7457638
- ClinVar RCV000800449
- ClinVar RCV002067392
- Uncertain significance
- Epileptic encephalopathy; not provided
- Missense
- MetaLR 0.85
- MetaSVM 0.39
- CADD 23.50
- PolyPhen-2 0.97
- SIFT 0.19
- ClinVar: Uncertain significance (Epileptic encephalopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.1e-05)