R243H (p.Arg243His) variant of SMAD3 (SMAD family member 3)
R243H (p.Arg243His) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial aortopathy; not provided; Familial thoracic aortic aneurysm and aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R243H (p.Arg243His) variant details
- p.Arg243His
- rs863223736
- ClinGen CA321332
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59285
- Conflicting interpretations
- Familial aortopathy; not provided; Familial thoracic aortic aneurysm and aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial aortopathy; not provided; Familial thoracic aortic aneu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)