G57V (p.Gly57Val) variant of ACTA2 (Actin, aortic smooth muscle)
G57V (p.Gly57Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- rs1564647168
- ClinGen CA377513474
- ClinVar RCV000692234
- ClinVar RCV001811441
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- EVE 0.98
- MutPred 0.89
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; not provided)
- 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)