A16T (p.Ala16Thr) variant of EPCAM (P16422)
A16T (p.Ala16Thr) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs1304699926
- ClinGen CA346721401
- ClinVar RCV004513534
- TOPMed rs1304699926
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.12
- MetaLR 0.26
- MetaSVM -0.83
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)