S41C (p.Ser41Cys) variant of JPH2 (Junctophilin-2)
S41C (p.Ser41Cys) in JPH2 (Junctophilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
S41C (p.Ser41Cys) variant details
- p.Ser41Cys
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available