L30P (p.Leu30Pro) variant of ACAD9 (Q9H845)
L30P (p.Leu30Pro) 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.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD 3-128879780-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.53
- MetaLR 0.81
- MetaSVM 0.49
- CADD 23.10
- PolyPhen-2 0.56
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available