E137A (p.Glu137Ala) variant of PKP2 (Plakophilin-2)
E137A (p.Glu137Ala) 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.
E137A (p.Glu137Ala) variant details
- p.Glu137Ala
- rs2541342621
- ClinGen CA384365366
- ClinVar RCV004519049
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in ARVD9)
- UniProt: Uncertain significance (in ARVD9)
- Structural context available