E239K (p.Glu239Lys) variant of SMAD3 (SMAD family member 3)
E239K (p.Glu239Lys) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
E239K (p.Glu239Lys) variant details
- p.Glu239Lys
- rs387906853
- ClinGen CA020100
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59283
- Likely pathogenic
- not provided; Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurys
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (not provided; Aneurysm-osteoarthritis syndrome; Familial thoraci)
- EBI: Pathogenic (in LDS3)
- UniProt: Pathogenic (in LDS3)
- Structural context available
- Cited in: Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with… (PMID 21778426)
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)