G17C (p.Gly17Cys) variant of JPH2 (Junctophilin-2)
G17C (p.Gly17Cys) 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.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60696
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available