R27Q (p.Arg27Gln) variant of ACAD9 (Q9H845)
R27Q (p.Arg27Gln) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- gnomAD rs1448589558
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.19
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available