R268H (p.Arg268His) variant of SMAD3 (SMAD family member 3)
R268H (p.Arg268His) 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 Thoracic aortic aneurysm and aortic dissection; not provided; Aneurysm-osteoarth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R268H (p.Arg268His) variant details
- p.Arg268His
- rs863223740
- ClinGen CA321807
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59281
- Conflicting interpretations
- Thoracic aortic aneurysm and aortic dissection; not provided; Aneurysm-osteoarth
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)