S35Y (p.Ser35Tyr) variant of ACTA2 (Actin, aortic smooth muscle)
S35Y (p.Ser35Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
S35Y (p.Ser35Tyr) variant details
- p.Ser35Tyr
- rs1845999816
- ClinGen CA377513630
- ClinVar RCV001224008
- Ensembl rs1845999816
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- EVE 0.95
- MutPred 0.72
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)