V28I (p.Val28Ile) variant of EPCAM (P16422)
V28I (p.Val28Ile) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- rs1671335376
- ClinGen CA346722381
- ClinVar RCV003176310
- TOPMed rs1671335376
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -1.00
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)