F12I (p.Phe12Ile) variant of RYR1 (Ryanodine receptor 1)
F12I (p.Phe12Ile) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
F12I (p.Phe12Ile) variant details
- p.Phe12Ile
- gnomAD 19-38433863-T-A
- Missense
- REVEL 0.85
- MetaLR 0.92
- MetaSVM 1.02
- CADD 28.80
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Literature evidence available