R31L (p.Arg31Leu) variant of ACAD9 (Q9H845)
R31L (p.Arg31Leu) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- ExAC rs753248658
- TOPMed rs753248658
- gnomAD rs753248658
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.33
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available