I48S (p.Ile48Ser) variant of ACAD9 (Q9H845)
I48S (p.Ile48Ser) in ACAD9 (Q9H845) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I48S (p.Ile48Ser) variant details
- p.Ile48Ser
- gnomAD 3-128879828-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available