R380K (p.Arg380Lys) variant of SMAD4 (SMAD family member 4)
R380K (p.Arg380Lys) 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 Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R380K (p.Arg380Lys) variant details
- p.Arg380Lys
- rs377767353
- ClinGen CA259219
- cosmic curated COSV61685
- ClinVar RCV001376547
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- 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)