S9L (p.Ser9Leu) variant of CDH1 (Cadherin-1)
S9L (p.Ser9Leu) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- rs1555509646
- ClinGen CA396451343
- cosmic curated COSV55737
- ClinVar RCV000561107
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- 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: 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)