G8D (p.Gly8Asp) variant of RYR3 (Ryanodine receptor 3)
G8D (p.Gly8Asp) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- rs534586557
- ClinGen CA268881109
- ClinVar RCV004447203
- TOPMed rs534586557
- Uncertain significance
- not specified
- Missense
- MetaLR 0.87
- MetaSVM 0.31
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.44
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)