G5A (p.Gly5Ala) variant of RYR3 (Ryanodine receptor 3)
G5A (p.Gly5Ala) 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.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- ExAC rs771419772
- TOPMed rs771419772
- gnomAD rs771419772
- Uncertain significance
- Missense
- MetaLR 0.78
- MetaSVM 0.30
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)