R287Q (p.Arg287Gln) variant of SMAD3 (SMAD family member 3)
R287Q (p.Arg287Gln) 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 Connective tissue disorder; Aneurysm-osteoarthritis syndrome; Familial thoracic. 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.
R287Q (p.Arg287Gln) variant details
- p.Arg287Gln
- rs730880214
- ClinGen CA020135
- cosmic curated COSV59280
- ClinVar RCV000157501
- Pathogenic/Likely pathogenic
- Connective tissue disorder; Aneurysm-osteoarthritis syndrome; Familial thoracic
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.99
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Connective tissue disorder; Aneurysm-osteoarthritis syndrome; Fa)
- EBI: Pathogenic (in LDS3)
- UniProt: Pathogenic (in LDS3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)