V57V (p.Val57Val) variant of RYR1 (Ryanodine receptor 1)
V57V (p.Val57Val) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
V57V (p.Val57Val) variant details
- p.Val57Val
- gnomAD 19-38442354-G-T
- Synonymous
- CADD 5.21
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available