S615F (p.Ser615Phe) variant of PKP2 (Plakophilin-2)
S615F (p.Ser615Phe) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S615F (p.Ser615Phe) variant details
- p.Ser615Phe
- rs1060501186
- ClinGen CA16614124
- cosmic curated COSV10875
- ClinVar RCV000475518
- Pathogenic
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Pathogenic (in ARVD9)
- UniProt: Pathogenic (in ARVD9)
- Population evidence available
- Structural context available
- Cited in: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (PMID 15489853)
- Cited in: Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. (PMID 22781308)