E5Q (p.Glu5Gln) variant of ACTA2 (Actin, aortic smooth muscle)
E5Q (p.Glu5Gln) 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 not provided; Multisystemic smooth muscle dysfunction syndrome; Aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- rs886047453
- ClinGen CA10629419
- NCI-TCGA Cosmic COSV5651
- ClinVar RCV000271493
- Uncertain significance
- not provided; Multisystemic smooth muscle dysfunction syndrome; Aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.68
- CADD 24.80
- PolyPhen-2 0.41
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Multisystemic smooth muscle dysfunction syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)