A40G (p.Ala40Gly) variant of ACAD9 (Q9H845)
A40G (p.Ala40Gly) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- gnomAD 3-128879810-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.46
- MetaLR 0.84
- MetaSVM 0.48
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available