G20V (p.Gly20Val) variant of JPH2 (Junctophilin-2)
G20V (p.Gly20Val) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available