R27G (p.Arg27Gly) variant of SMAD4 (SMAD family member 4)
R27G (p.Arg27Gly) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.65 / 1. The record also includes published literature and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs2144400756
- ClinGen CA402457529
- ClinVar RCV003597045
- ClinVar RCV005030132
- Uncertain significance
- Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.45
- MetaSVM -0.10
- CADD 37.00
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Familial thoracic aortic aneurysm a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. (PMID 25645574)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)