S9A (p.Ser9Ala) variant of CDH1 (Cadherin-1)
S9A (p.Ser9Ala) 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 0.30 / 1. The record also includes published literature and structural context.
S9A (p.Ser9Ala) variant details
- p.Ser9Ala
- rs1555509645
- ClinGen CA396451336
- ClinVar RCV000639268
- ClinVar RCV002440262
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.41
- MutPred 0.44
- ClinVar: Conflicting classifications of pathogenicity (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)