P55Q (p.Pro55Gln) variant of ACAD9 (Q9H845)
P55Q (p.Pro55Gln) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P55Q (p.Pro55Gln) variant details
- p.Pro55Gln
- gnomAD 3-128884666-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.85
- MetaLR 0.94
- MetaSVM 1.06
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.85
- Population evidence available
- Structural context available
- Literature evidence available