P235S (p.Pro235Ser) variant of PKP2 (Plakophilin-2)
P235S (p.Pro235Ser) 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; Arrhythmogenic right ventricular c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P235S (p.Pro235Ser) variant details
- p.Pro235Ser
- rs2541340244
- ClinGen CA384363182
- ClinVar RCV004014413
- ClinVar RCV005103245
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular c
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.26
- MetaLR 0.46
- MetaSVM -0.78
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic rig)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)