F47S (p.Phe47Ser) variant of RYR1 (Ryanodine receptor 1)
F47S (p.Phe47Ser) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
F47S (p.Phe47Ser) variant details
- p.Phe47Ser
- gnomAD 19-38440839-T-C
- Missense
- REVEL 0.82
- MetaLR 0.93
- MetaSVM 1.07
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Literature evidence available