P3T (p.Pro3Thr) variant of EPCAM (P16422)
P3T (p.Pro3Thr) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- rs587780772
- ClinGen CA1648800
- ClinVar RCV003204055
- ExAC rs587780772
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.07
- MetaLR 0.29
- MetaSVM -0.79
- CADD 16.90
- PolyPhen-2 0.14
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.5e-05)
- 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)