C2S (p.Cys2Ser) variant of ACTA2 (Actin, aortic smooth muscle)
C2S (p.Cys2Ser) 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; not provided; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C2S (p.Cys2Ser) variant details
- p.Cys2Ser
- rs1846002030
- ClinGen CA377513853
- ClinVar RCV001236528
- ClinVar RCV003166464
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; not provided; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; not provided; Familial tho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- 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)