D27N (p.Asp27Asn) variant of ACTA2 (Actin, aortic smooth muscle)
D27N (p.Asp27Asn) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- rs794728020
- ClinGen CA007036
- ClinVar RCV001799144
- ClinVar RCV006557741
- Conflicting interpretations
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.74
- PolyPhen-2 1.00
- EVE 0.50
- MutPred 0.77
- ClinVar: Conflicting classifications of pathogenicity (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- 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)