Q16* (p.Gln16Ter) variant of CDH1 (Cadherin-1)
Q16* (p.Gln16Ter) 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 0.40 / 1. The record also includes published literature and structural context.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- rs770244203
- ClinGen CA8129776
- cosmic curated COSV55739
- ClinVar RCV003336875
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.57
- PolyPhen-2 0.96
- SIFT 0.02
- MutPred 0.52
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)