G42V (p.Gly42Val) variant of RYR3 (Ryanodine receptor 3)
G42V (p.Gly42Val) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- Ensembl rs2049110755
- Missense
- MetaLR 0.98
- MetaSVM 1.05
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)