V65I (p.Val65Ile) variant of RYR3 (Ryanodine receptor 3)
V65I (p.Val65Ile) 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 not specified; Epileptic encephalopathy. The record also includes variant effect predictions and population frequency data.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs572913737
- ClinGen CA7457729
- cosmic curated COSV66776
- ClinVar RCV001298476
- Uncertain significance
- not specified; Epileptic encephalopathy
- Missense
- MetaLR 0.63
- MetaSVM 0.11
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)