F12F (p.Phe12Phe) variant of RYR1 (Ryanodine receptor 1)
F12F (p.Phe12Phe) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
F12F (p.Phe12Phe) variant details
- p.Phe12Phe
- rs2145288960
- gnomAD 19-38433865-C-T
- Synonymous
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Literature evidence available