S19P (p.Ser19Pro) variant of CDH1 (Cadherin-1)
S19P (p.Ser19Pro) 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 diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S19P (p.Ser19Pro) variant details
- p.Ser19Pro
- rs1042391377
- NCI-TCGA TCGA novel
- ClinGen CA396451608
- cosmic curated COSV10437
- Conflicting interpretations
- Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.55
- MutPred 0.39
- ClinVar: Conflicting classifications of pathogenicity (Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-pre)
- EBI: Likely benign
- UniProt: Likely benign
- 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)