S132F (p.Ser132Phe) variant of PKP2 (Plakophilin-2)
S132F (p.Ser132Phe) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S132F (p.Ser132Phe) variant details
- p.Ser132Phe
- rs765241754
- ClinGen CA384365395
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.19
- MetaLR 0.63
- MetaSVM -0.15
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.27
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)