p.Asp8dup variant of RYR1 (Ryanodine receptor 1)
p.Asp8dup in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Asp8dup variant details
- rs1568426053
- gnomAD 19-38433850-A-AGA
- Inframe Insertion
- CADD 21.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available