H180R (p.His180Arg) variant of PKP2 (Plakophilin-2)
H180R (p.His180Arg) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Arrhythmogenic right ventricular dysplasia 9; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H180R (p.His180Arg) variant details
- p.His180Arg
- rs2541341475
- ClinGen CA384364632
- ClinVar RCV002511481
- ClinVar RCV006553348
- Uncertain significance
- not provided; Arrhythmogenic right ventricular dysplasia 9; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.26
- MetaLR 0.29
- MetaSVM -0.83
- CADD 7.81
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; Arrhythmogenic right ventricular dysplasia 9; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)