S44P (p.Ser44Pro) variant of PKP2 (Plakophilin-2)
S44P (p.Ser44Pro) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 9; Cardiovascular phenotype. The record also includes published literature and structural context.
S44P (p.Ser44Pro) variant details
- p.Ser44Pro
- rs2541384544
- ClinGen CA2580085400
- ClinVar RCV002380825
- ClinVar RCV003618000
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)