E52D (p.Glu52Asp) variant of ACAD9 (Q9H845)
E52D (p.Glu52Asp) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD 3-128884658-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.42
- MetaLR 0.80
- MetaSVM 0.23
- CADD 22.80
- PolyPhen-2 0.14
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available