M49K (p.Met49Lys) variant of ACTA2 (Actin, aortic smooth muscle)
M49K (p.Met49Lys) 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 Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M49K (p.Met49Lys) variant details
- p.Met49Lys
- rs869025352
- ClinGen CA351763
- ClinVar RCV000208083
- Ensembl rs869025352
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 0.04
- EVE 0.29
- MutPred 0.79
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)