E49G (p.Glu49Gly) variant of RYR1 (Ryanodine receptor 1)
E49G (p.Glu49Gly) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.