Q5* (p.Gln5Ter) variant of EPCAM (P16422)
Q5* (p.Gln5Ter) 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 0.49 / 1. The record also includes population frequency data and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- rs747738988
- ClinGen CA1648804
- NCI-TCGA Cosmic COSV9976
- ClinVar RCV001250162
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available