L8Q (p.Leu8Gln) variant of ACAD9 (Q9H845)
L8Q (p.Leu8Gln) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L8Q (p.Leu8Gln) variant details
- p.Leu8Gln
- ExAC rs765582380
- TOPMed rs765582380
- gnomAD rs765582380
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.34
- CADD 17.80
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available