K47Q (p.Lys47Gln) variant of ACAD9 (Q9H845)
K47Q (p.Lys47Gln) in ACAD9 (Q9H845) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K47Q (p.Lys47Gln) variant details
- p.Lys47Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.25
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available