D26E (p.Asp26Glu) variant of ACTA2 (Actin, aortic smooth muscle)
D26E (p.Asp26Glu) 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 Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D26E (p.Asp26Glu) variant details
- p.Asp26Glu
- rs141538225
- ClinGen CA029465
- ClinVar RCV000703601
- ClinVar RCV001524997
- Uncertain significance
- Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.63
- CADD 5.55
- PolyPhen-2 0.70
- SIFT 0.15
- ClinVar: Uncertain significance (Multisystemic smooth muscle dysfunction syndrome; Moyamoya disea)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)