R204H (p.Arg204His) variant of PKP2 (Plakophilin-2)
R204H (p.Arg204His) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R204H (p.Arg204His) variant details
- p.Arg204His
- rs755215178
- ClinGen CA012412
- NCI-TCGA Cosmic COSV5074
- NCI-TCGA Cosmic COSV9929
- Conflicting interpretations
- not specified; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.83
- CADD 1.07
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiomyopathy; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)