A40T (p.Ala40Thr) variant of ACAD9 (Q9H845)
A40T (p.Ala40Thr) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD 3-128879809-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.56
- MetaLR 0.82
- MetaSVM 0.73
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available