G19C (p.Gly19Cys) variant of ACAD9 (Q9H845)
G19C (p.Gly19Cys) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- rs1364043818
- ClinGen CA354429584
- ClinVar RCV003139550
- TOPMed rs1364043818
- Uncertain significance
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- AlphaMissense 0.12
- MetaLR 0.77
- MetaSVM 0.14
- PolyPhen-2 0.21
- SIFT 0.11
- MutPred 0.47
- ClinVar: Uncertain significance (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available