E11K (p.Glu11Lys) variant of RYR3 (Ryanodine receptor 3)
E11K (p.Glu11Lys) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- cosmic curated COSV10532
- TOPMed rs1967171969
- gnomAD rs1967171969
- Missense
- MetaLR 0.96
- MetaSVM 0.87
- CADD 24.50
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)