C17S (p.Cys17Ser) variant of ACAD9 (Q9H845)
C17S (p.Cys17Ser) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C17S (p.Cys17Ser) variant details
- p.Cys17Ser
- gnomAD 3-128879741-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.28
- CADD 9.72
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available