S19F (p.Ser19Phe) variant of CDH1 (Cadherin-1)
S19F (p.Ser19Phe) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro. 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.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- rs1221633501
- ClinGen CA396451618
- ClinVar RCV001024425
- ClinVar RCV001207327
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.51
- SIFT 0.18
- MutPred 0.46
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-pre)
- 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)