D17D (p.Asp17Asp) variant of RYR1 (Ryanodine receptor 1)
D17D (p.Asp17Asp) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
D17D (p.Asp17Asp) variant details
- p.Asp17Asp
- gnomAD 19-38440750-T-C
- Synonymous
- CADD 2.79
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Literature evidence available