A28V (p.Ala28Val) variant of ACTA2 (Actin, aortic smooth muscle)
A28V (p.Ala28Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs886038855
- ClinGen CA10587715
- ClinVar RCV000694475
- ClinVar RCV001179389
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.90
- PolyPhen-2 0.74
- EVE 0.38
- MutPred 0.74
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)