A99G (p.Ala99Gly) variant of ACTA2 (Actin, aortic smooth muscle)
A99G (p.Ala99Gly) 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; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A99G (p.Ala99Gly) variant details
- p.Ala99Gly
- rs779757924
- ClinGen CA027367
- ClinVar RCV000439048
- ClinVar RCV000585788
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.72
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)