G6S (p.Gly6Ser) variant of RYR1 (Ryanodine receptor 1)
G6S (p.Gly6Ser) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- gnomAD 19-38433845-G-A
- Missense
- REVEL 0.46
- MetaLR 0.90
- MetaSVM 0.81
- CADD 26.90
- PolyPhen-2 0.96
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available