G76S (p.Gly76Ser) variant of ACTA2 (Actin, aortic smooth muscle)
G76S (p.Gly76Ser) 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 0.89 / 1. The record also includes structural context.
G76S (p.Gly76Ser) variant details
- p.Gly76Ser
- rs1064793016
- ClinGen CA16619078
- ClinVar RCV000480516
- Ensembl rs1064793016
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- EVE 0.61
- MutPred 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available