G75* (p.Gly75Ter) variant of PKP2 (Plakophilin-2)
G75* (p.Gly75Ter) in PKP2 (Plakophilin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G75* (p.Gly75Ter) variant details
- p.Gly75Ter
- rs765852160
- ClinGen CA384370368
- ClinVar RCV003150764
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 52.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)