W4C (p.Trp4Cys) variant of CDH1 (Cadherin-1)
W4C (p.Trp4Cys) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
W4C (p.Trp4Cys) variant details
- p.Trp4Cys
- rs1555509636
- ClinGen CA396451252
- ClinVar RCV003324989
- ClinVar RCV004334082
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.10
- MetaLR 0.06
- MetaSVM -1.07
- PolyPhen-2 0.16
- SIFT 0.18
- MutPred 0.40
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- 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)