R18W (p.Arg18Trp) variant of ACAD9 (Q9H845)
R18W (p.Arg18Trp) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- gnomAD 3-128879743-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.42
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available