R122C (p.Arg122Cys) variant of PKP2 (Plakophilin-2)
R122C (p.Arg122Cys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R122C (p.Arg122Cys) variant details
- p.Arg122Cys
- rs759377911
- ClinGen CA037071
- NCI-TCGA Cosmic COSV5075
- cosmic curated COSV50752
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- MetaLR 0.39
- MetaSVM -0.61
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)