E42V (p.Glu42Val) variant of ACAD9 (Q9H845)
E42V (p.Glu42Val) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E42V (p.Glu42Val) variant details
- p.Glu42Val
- gnomAD 3-128879816-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.50
- MetaLR 0.86
- MetaSVM 0.74
- CADD 24.50
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available