A18P (p.Ala18Pro) variant of EPCAM (P16422)
A18P (p.Ala18Pro) 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 0.43 / 1. The record also includes published literature and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- rs2103738184
- ClinGen CA346721416
- ClinVar RCV004513538
- Ensembl rs2103738184
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.52
- MetaLR 0.36
- MetaSVM -0.70
- PolyPhen-2 0.97
- SIFT 0.05
- EVE 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)