p.Gly42 Phe47del variant of RYR1 (Ryanodine receptor 1)
p.Gly42 Phe47del in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Gly42 Phe47del variant details
- gnomAD 19-38440817-GGCTT
- Inframe Deletion
- CADD 21.20
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Literature evidence available