C64S (p.Cys64Ser) variant of RYR3 (Ryanodine receptor 3)
C64S (p.Cys64Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
C64S (p.Cys64Ser) variant details
- p.Cys64Ser
- gnomAD 15-33503650-G-C
- Missense
- MetaLR 0.78
- MetaSVM 0.53
- CADD 22.80
- PolyPhen-2 0.67
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available