E19K (p.Glu19Lys) variant of RYR2 (Ryanodine receptor 2)
E19K (p.Glu19Lys) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.88
- MetaSVM 0.92
- SIFT 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available