V122M (p.Val122Met) variant of SMAD3 (SMAD family member 3)
V122M (p.Val122Met) 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 Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
V122M (p.Val122Met) variant details
- p.Val122Met
- rs587782977
- ClinGen CA020081
- cosmic curated COSV59286
- ClinVar RCV000143952
- Pathogenic/Likely pathogenic
- Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.96
- MetaLR 0.72
- MetaSVM 0.65
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneur)
- 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)