I26F (p.Ile26Phe) variant of RYR3 (Ryanodine receptor 3)
I26F (p.Ile26Phe) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
I26F (p.Ile26Phe) variant details
- p.Ile26Phe
- Ensembl rs1567315750
- Missense
- MetaLR 0.81
- MetaSVM 0.66
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.3e-05)