V76F (p.Val76Phe) variant of RYR3 (Ryanodine receptor 3)
V76F (p.Val76Phe) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
V76F (p.Val76Phe) variant details
- p.Val76Phe
- TOPMed rs1196648417
- gnomAD rs1196648417
- Missense
- MetaLR 0.96
- MetaSVM 1.09
- CADD 24.40
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)