I66L (p.Ile66Leu) variant of ACTA2 (Actin, aortic smooth muscle)
I66L (p.Ile66Leu) 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 Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
I66L (p.Ile66Leu) variant details
- p.Ile66Leu
- rs1554841834
- ClinGen CA377513413
- ClinVar RCV000645623
- Ensembl rs1554841834
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.81
- PolyPhen-2 0.00
- EVE 0.33
- MutPred 0.57
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- 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)