E66K (p.Glu66Lys) variant of ACAD9 (Q9H845)
E66K (p.Glu66Lys) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- gnomAD rs1188629448
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.78
- CADD 24.80
- PolyPhen-2 0.70
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available