E18K (p.Glu18Lys) variant of RYR1 (Ryanodine receptor 1)
E18K (p.Glu18Lys) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 1; not provided. The record also includes variant effect predictions and population frequency data.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- TOPMed rs1248277493
- gnomAD rs1248277493
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 1; not provided
- Missense
- REVEL 0.58
- MetaLR 0.93
- MetaSVM 1.06
- CADD 25.40
- PolyPhen-2 0.90
- SIFT 0.31
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)