G75V (p.Gly75Val) variant of PKP2 (Plakophilin-2)
G75V (p.Gly75Val) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
G75V (p.Gly75Val) variant details
- p.Gly75Val
- NCI-TCGA Cosmic COSV5073
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- TOPMed rs267603443
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available