C64Y (p.Cys64Tyr) variant of RYR3 (Ryanodine receptor 3)
C64Y (p.Cys64Tyr) 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.
C64Y (p.Cys64Tyr) variant details
- p.Cys64Tyr
- rs761781474
- ClinGen CA7457728
- ClinVar RCV001071177
- ExAC rs761781474
- Uncertain significance
- Epileptic encephalopathy
- Missense
- MetaLR 0.92
- MetaSVM 0.92
- CADD 26.60
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)