W524C (p.Trp524Cys) variant of SMAD4 (SMAD family member 4)
W524C (p.Trp524Cys) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
W524C (p.Trp524Cys) variant details
- p.Trp524Cys
- rs1568211588
- cosmic curated COSV61686
- Ensembl rs1568211588
- ClinGen CA402466062
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)