P84S (p.Pro84Ser) variant of PKP2 (Plakophilin-2)
P84S (p.Pro84Ser) 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; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P84S (p.Pro84Ser) variant details
- p.Pro84Ser
- rs756468173
- ClinGen CA035712
- NCI-TCGA Cosmic COSV5074
- cosmic curated COSV50742
- Uncertain significance
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.56
- MetaLR 0.85
- MetaSVM 0.53
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)