R212H (p.Arg212His) variant of PKP2 (Plakophilin-2)
R212H (p.Arg212His) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular cardiomyopathy; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R212H (p.Arg212His) variant details
- p.Arg212His
- rs1369618463
- ClinGen CA384363873
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99298
- Conflicting interpretations
- Arrhythmogenic right ventricular cardiomyopathy; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.23
- MetaLR 0.42
- MetaSVM -0.58
- CADD 19.30
- PolyPhen-2 0.16
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular cardiomyopathy; not provided; C)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)