V17F (p.Val17Phe) variant of CDH1 (Cadherin-1)
V17F (p.Val17Phe) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V17F (p.Val17Phe) variant details
- p.Val17Phe
- rs780470521
- ClinGen CA8129793
- cosmic curated COSV55727
- ClinVar RCV002343023
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.92
- PolyPhen-2 0.74
- SIFT 0.00
- MutPred 0.58
- ClinVar: Uncertain significance (not specified; 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)