K52E (p.Lys52Glu) variant of ACTA2 (Actin, aortic smooth muscle)
K52E (p.Lys52Glu) 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 0.77 / 1. The record also includes published literature and structural context.
K52E (p.Lys52Glu) variant details
- p.Lys52Glu
- rs1589399071
- ClinGen CA377513514
- ClinVar RCV000788481
- ClinVar RCV001290138
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.43
- EVE 0.42
- MutPred 0.68
- 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)