M1L (p.Met1Leu) variant of SMAD3 (SMAD family member 3)
M1L (p.Met1Leu) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1555405092
- ClinGen CA393202665
- ClinVar RCV002315227
- ClinVar RCV005415437
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- MetaLR 0.71
- MetaSVM 0.18
- PolyPhen-2 0.00
- SIFT 0.35
- MutPred 0.99
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Pathogenic
- UniProt: 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)