D26H (p.Asp26His) variant of ACTA2 (Actin, aortic smooth muscle)
D26H (p.Asp26His) 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; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D26H (p.Asp26His) variant details
- p.Asp26His
- rs1438979811
- ClinGen CA377513692
- ClinVar RCV001191610
- ClinVar RCV001228407
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.50
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)