G57S (p.Gly57Ser) variant of ACTA2 (Actin, aortic smooth muscle)
G57S (p.Gly57Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- rs1845970518
- ClinGen CA377513477
- ClinVar RCV003887254
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- EVE 0.93
- MutPred 0.88
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available