S7R (p.Ser7Arg) variant of CDH1 (Cadherin-1)
S7R (p.Ser7Arg) 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 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.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- rs1555509640
- ClinGen CA396451311
- ClinVar RCV001525263
- Ensembl rs1555509640
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.36
- MutPred 0.48
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)