Y353C (p.Tyr353Cys) variant of SMAD4 (SMAD family member 4)
Y353C (p.Tyr353Cys) 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 0.90 / 1. The record also includes published literature and structural context.
Y353C (p.Tyr353Cys) variant details
- p.Tyr353Cys
- rs377767346
- ClinGen CA402464297
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61688
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)