C499R (p.Cys499Arg) variant of SMAD4 (SMAD family member 4)
C499R (p.Cys499Arg) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C499R (p.Cys499Arg) variant details
- p.Cys499Arg
- rs1060500738
- ClinGen CA16615805
- cosmic curated COSV61685
- ClinVar RCV000489838
- Pathogenic/Likely pathogenic
- Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.87
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Juvenile polyposis syndrome; Familial thoracic aortic aneurysm a)
- EBI: Pathogenic
- UniProt: 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)