S9W (p.Ser9Trp) variant of CDH1 (Cadherin-1)
S9W (p.Ser9Trp) 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. 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.
S9W (p.Ser9Trp) variant details
- p.Ser9Trp
- rs1555509646
- ClinGen CA396451341
- ClinVar RCV003512869
- Ensembl rs1555509646
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.98
- PolyPhen-2 0.95
- SIFT 0.18
- MutPred 0.57
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)