L74V (p.Leu74Val) variant of RYR3 (Ryanodine receptor 3)
L74V (p.Leu74Val) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L74V (p.Leu74Val) variant details
- p.Leu74Val
- gnomAD 15-33503679-C-G
- Missense
- MetaLR 0.94
- MetaSVM 1.02
- CADD 22.40
- PolyPhen-2 0.42
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available