R279K (p.Arg279Lys) variant of SMAD3 (SMAD family member 3)
R279K (p.Arg279Lys) 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 Aneurysm-osteoarthritis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R279K (p.Arg279Lys) variant details
- p.Arg279Lys
- rs387906852
- ClinGen CA020124
- cosmic curated COSV59280
- ClinVar RCV000023245
- Likely pathogenic
- Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Aneurysm-osteoarthritis syndrome)
- 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)