M49V (p.Met49Val) variant of ACTA2 (Actin, aortic smooth muscle)
M49V (p.Met49Val) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M49V (p.Met49Val) variant details
- p.Met49Val
- rs397515325
- ClinGen CA006843
- ClinVar RCV000055648
- Ensembl rs397515325
- Pathogenic
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 0.02
- EVE 0.34
- MutPred 0.84
- ClinVar: Pathogenic (Aortic aneurysm, familial thoracic 6)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. (PMID 21248741)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)