V230I (p.Val230Ile) variant of PKP2 (Plakophilin-2)
V230I (p.Val230Ile) 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; Arrhythmogenic right ventricular cardiomyopathy; Cardi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V230I (p.Val230Ile) variant details
- p.Val230Ile
- rs543281875
- ClinGen CA038350
- NCI-TCGA Cosmic COSV5072
- cosmic curated COSV50726
- Conflicting interpretations
- Cardiovascular phenotype; Arrhythmogenic right ventricular cardiomyopathy; Cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.24
- MetaLR 0.44
- MetaSVM -0.70
- CADD 8.38
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Arrhythmogenic right ventricular cardi)
- EBI: Likely benign
- UniProt: Likely benign
- 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)