E5V (p.Glu5Val) variant of RYR1 (Ryanodine receptor 1)
E5V (p.Glu5Val) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- NCI-TCGA Cosmic COSV6210
- cosmic curated COSV62105
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.