p.Gln11 Phe12insValHis variant of RYR1 (Ryanodine receptor 1)
p.Gln11 Phe12insValHis in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Gln11 Phe12insValHis variant details
- gnomAD 19-38433862-G-GGT
- Inframe Insertion
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Literature evidence available