W20S (p.Trp20Ser) variant of CDH1 (Cadherin-1)
W20S (p.Trp20Ser) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
W20S (p.Trp20Ser) variant details
- p.Trp20Ser
- rs121964875
- ClinGen CA396451633
- ClinVar RCV000793152
- ClinVar RCV002352316
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.72
- MutPred 0.55
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)