I59V (p.Ile59Val) variant of RYR3 (Ryanodine receptor 3)
I59V (p.Ile59Val) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
I59V (p.Ile59Val) variant details
- p.Ile59Val
- ExAC rs776764204
- TOPMed rs776764204
- gnomAD rs776764204
- Missense
- MetaLR 0.53
- MetaSVM -0.13
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)