C22F (p.Cys22Phe) variant of CDH1 (Cadherin-1)
C22F (p.Cys22Phe) 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 cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
C22F (p.Cys22Phe) variant details
- p.Cys22Phe
- rs1555509758
- ClinGen CA396451673
- ClinVar RCV003511726
- ClinVar RCV005323498
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.25
- MetaLR 0.21
- MetaSVM -0.72
- PolyPhen-2 1.00
- SIFT 0.20
- MutPred 0.62
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)