C17W (p.Cys17Trp) variant of ACAD9 (Q9H845)
C17W (p.Cys17Trp) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C17W (p.Cys17Trp) variant details
- p.Cys17Trp
- gnomAD 3-128879742-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available