E49D (p.Glu49Asp) variant of RYR1 (Ryanodine receptor 1)
E49D (p.Glu49Asp) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.