S7N (p.Ser7Asn) variant of CDH1 (Cadherin-1)
S7N (p.Ser7Asn) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- rs1310934198
- ClinGen CA396451305
- ClinVar RCV004518892
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.04
- SIFT 0.49
- MutPred 0.43
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- 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)