S7G (p.Ser7Gly) variant of ACTA2 (Actin, aortic smooth muscle)
S7G (p.Ser7Gly) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S7G (p.Ser7Gly) variant details
- p.Ser7Gly
- ExAC rs765607611
- gnomAD rs765607611
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.33
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available