V57L (p.Val57Leu) variant of RYR1 (Ryanodine receptor 1)
V57L (p.Val57Leu) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
V57L (p.Val57Leu) variant details
- p.Val57Leu
- gnomAD 19-38442352-G-T
- Missense
- REVEL 0.51
- MetaLR 0.88
- MetaSVM 0.79
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Literature evidence available