G23* (p.Gly23Ter) variant of PKP2 (Plakophilin-2)
G23* (p.Gly23Ter) in PKP2 (Plakophilin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G23* (p.Gly23Ter) variant details
- p.Gly23Ter
- rs770498155
- ClinGen CA384371581
- ClinVar RCV003508117
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)