W20* (p.Trp20Ter) variant of CDH1 (Cadherin-1)
W20* (p.Trp20Ter) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
W20* (p.Trp20Ter) variant details
- p.Trp20Ter
- rs121964875
- ClinGen CA280996
- cosmic curated COSV55737
- ClinVar RCV000013026
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.72
- MutPred 0.55
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. (PMID 10072428)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)