E52K (p.Glu52Lys) variant of ACAD9 (Q9H845)
E52K (p.Glu52Lys) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- gnomAD 3-128884656-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.40
- MetaLR 0.84
- MetaSVM 0.53
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available