A112L (p.Ala112Leu) variant of SMAD3 (SMAD family member 3)
A112L (p.Ala112Leu) 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 record also includes published literature and structural context.
A112L (p.Ala112Leu) variant details
- p.Ala112Leu
- rs1595941823
- ClinGen CA915946051
- ClinVar RCV000993702
- Ensembl rs1595941823
- Likely pathogenic
- Aneurysm-osteoarthritis syndrome
- Missense
- ClinVar: Likely pathogenic (Aneurysm-osteoarthritis syndrome)
- EBI: Likely pathogenic (in LDS3)
- UniProt: Likely pathogenic (in LDS3)
- 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)