E25* (p.Glu25Ter) variant of EPCAM (P16422)
E25* (p.Glu25Ter) in EPCAM (P16422) 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 0.26 / 1. The record also includes population frequency data and structural context.
E25* (p.Glu25Ter) variant details
- p.Glu25Ter
- rs1385489500
- ClinGen CA346721484
- ClinVar RCV003487870
- ClinVar RCV004731540
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available