G19D (p.Gly19Asp) variant of ACAD9 (Q9H845)
G19D (p.Gly19Asp) in ACAD9 (Q9H845) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- ExAC rs779957523
- TOPMed rs779957523
- gnomAD rs779957523
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.30
- CADD 5.30
- PolyPhen-2 0.01
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available