M46I (p.Met46Ile) variant of ACTA2 (Actin, aortic smooth muscle)
M46I (p.Met46Ile) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 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.
M46I (p.Met46Ile) variant details
- p.Met46Ile
- rs878854466
- ClinGen CA10582774
- ClinVar RCV000227796
- Ensembl rs878854466
- Pathogenic/Likely pathogenic
- not provided; Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.82
- PolyPhen-2 0.10
- EVE 0.33
- MutPred 0.83
- ClinVar: Pathogenic/Likely pathogenic (not provided; Aortic aneurysm, familial thoracic 6)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)