M1V (p.Met1Val) variant of ACTA2 (Actin, aortic smooth muscle)
M1V (p.Met1Val) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs794728019
- ClinGen CA006856
- ClinVar RCV000181012
- ClinVar RCV005401354
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 0.32
- MutPred 0.61
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)