E20D (p.Glu20Asp) variant of RYR3 (Ryanodine receptor 3)
E20D (p.Glu20Asp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- cosmic curated COSV66795
- ExAC rs755936109
- TOPMed rs755936109
- gnomAD rs755936109
- Missense
- MetaLR 0.93
- MetaSVM 0.86
- CADD 22.90
- PolyPhen-2 0.86
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)