S140F (p.Ser140Phe) variant of PKP2 (Plakophilin-2)
S140F (p.Ser140Phe) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S140F (p.Ser140Phe) variant details
- p.Ser140Phe
- rs150821281
- ClinGen CA010672
- ClinVar RCV000038218
- ClinVar RCV000148729
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.47
- MetaLR 0.30
- MetaSVM -0.77
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign (in dbSNP:rs150821281)
- UniProt: Benign (in dbSNP:rs150821281)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (PMID 15489853)
- Cited in: Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or… (PMID 19955750)