G5V (p.Gly5Val) variant of RYR3 (Ryanodine receptor 3)
G5V (p.Gly5Val) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- ExAC rs771419772
- TOPMed rs771419772
- gnomAD rs771419772
- Uncertain significance
- Missense
- MetaLR 0.85
- MetaSVM 0.75
- CADD 24.40
- PolyPhen-2 0.13
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)