I26V (p.Ile26Val) variant of RYR3 (Ryanodine receptor 3)
I26V (p.Ile26Val) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- gnomAD 15-33473443-A-G
- Missense
- MetaLR 0.65
- MetaSVM -0.23
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available