Q23* (p.Gln23Ter) variant of CDH1 (Cadherin-1)
Q23* (p.Gln23Ter) 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 population frequency data, published literature, and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs1962456814
- ClinGen CA396451685
- NCI-TCGA Cosmic COSV5572
- cosmic curated COSV55726
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.35
- 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)