V45A (p.Val45Ala) variant of ACTA2 (Actin, aortic smooth muscle)
V45A (p.Val45Ala) 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 0.77 / 1. The record also includes published literature and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs1554841848
- ClinGen CA377513557
- ClinVar RCV000645620
- Ensembl rs1554841848
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.94
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.19
- EVE 0.45
- MutPred 0.71
- 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)