G6D (p.Gly6Asp) variant of RYR1 (Ryanodine receptor 1)
G6D (p.Gly6Asp) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- TOPMed rs1218901600
- gnomAD rs1218901600
- Missense
- REVEL 0.47
- MetaLR 0.91
- MetaSVM 1.07
- CADD 28.60
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)