A60T (p.Ala60Thr) variant of ACTA2 (Actin, aortic smooth muscle)
A60T (p.Ala60Thr) 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; Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs794728022
- ClinGen CA006851
- ClinVar RCV000181016
- ClinVar RCV004786494
- Uncertain significance
- not provided; Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 0.01
- EVE 0.79
- MutPred 0.84
- ClinVar: Uncertain significance (not provided; 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)