R287W (p.Arg287Trp) variant of SMAD3 (SMAD family member 3)
R287W (p.Arg287Trp) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ehlers-Danlos syndrome; not provided; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R287W (p.Arg287Trp) variant details
- p.Arg287Trp
- rs387906850
- ClinGen CA020130
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59286
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome; not provided; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.87
- CADD 21.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome; not provided; Familial thoracic aortic a)
- EBI: Pathogenic (in LDS3)
- UniProt: Pathogenic (in LDS3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. (PMID 21217753)
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)