S9* (p.Ser9Ter) variant of CDH1 (Cadherin-1)
S9* (p.Ser9Ter) in CDH1 (Cadherin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
S9* (p.Ser9Ter) variant details
- p.Ser9Ter
- rs1555509646
- ClinGen CA396451339
- NCI-TCGA Cosmic COSV5572
- cosmic curated COSV55728
- Pathogenic
- Stop Gained
- 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
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)