S33K (p.Ser33Lys) variant of ACAD9 (Q9H845)
S33K (p.Ser33Lys) in ACAD9 (Q9H845) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S33K (p.Ser33Lys) variant details
- p.Ser33Lys
- gnomAD 3-128879787-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available