G40S (p.Gly40Ser) variant of RYR1 (Ryanodine receptor 1)
G40S (p.Gly40Ser) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G40S (p.Gly40Ser) variant details
- p.Gly40Ser
- gnomAD 19-38440817-G-A
- Missense
- REVEL 0.82
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Literature evidence available