D60D (p.Asp60Asp) variant of RYR1 (Ryanodine receptor 1)
D60D (p.Asp60Asp) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
D60D (p.Asp60Asp) variant details
- p.Asp60Asp
- gnomAD 19-38442363-T-C
- Synonymous
- CADD 7.45
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available