L13P (p.Leu13Pro) variant of EPCAM (P16422)
L13P (p.Leu13Pro) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital diarrhea 5 with tufting enteropathy; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs776646187
- ClinGen CA1648809
- ClinVar RCV000986630
- ClinVar RCV003307788
- Uncertain significance
- Congenital diarrhea 5 with tufting enteropathy; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.65
- MetaLR 0.54
- MetaSVM 0.07
- CADD 23.70
- PolyPhen-2 0.77
- SIFT 0.07
- ClinVar: Uncertain significance (Congenital diarrhea 5 with tufting enteropathy; Hereditary cance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)