E58* (p.Glu58Ter) variant of PKP2 (Plakophilin-2)
E58* (p.Glu58Ter) 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 0.73 / 1. The record also includes population frequency data and structural context.
E58* (p.Glu58Ter) variant details
- p.Glu58Ter
- rs1197820814
- ClinGen CA384370911
- ClinVar RCV003317864
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 39.00
- EBI: Pathogenic (in dbSNP:rs146708884)
- UniProt: Pathogenic (in dbSNP:rs146708884)
- Population evidence available
- Structural context available