Q365L (p.Gln365Leu) variant of SMAD3 (SMAD family member 3)
Q365L (p.Gln365Leu) 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 0.79 / 1. The record also includes published literature and structural context.
Q365L (p.Gln365Leu) variant details
- p.Gln365Leu
- rs1595962708
- ClinGen CA392958236
- ClinVar RCV000989349
- Ensembl rs1595962708
- Likely pathogenic
- Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.60
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 0.37
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Aneurysm-osteoarthritis syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)