R17S (p.Arg17Ser) variant of ACADM (P11310)
R17S (p.Arg17Ser) in ACADM (P11310) 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.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- gnomAD 1-75728419-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.43
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available