M49T (p.Met49Thr) variant of ACTA2 (Actin, aortic smooth muscle)
M49T (p.Met49Thr) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial aortopathy; Familial thoracic aortic aneurysm and aortic dissection; Ao. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M49T (p.Met49Thr) variant details
- p.Met49Thr
- rs869025352
- ClinGen CA377513533
- ClinVar RCV002314193
- ClinVar RCV002531810
- Likely pathogenic
- Familial aortopathy; Familial thoracic aortic aneurysm and aortic dissection; Ao
- 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: Likely pathogenic (Familial aortopathy; Familial thoracic aortic aneurysm and aorti)
- EBI: Likely pathogenic
- UniProt: Likely 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)