R17G (p.Arg17Gly) variant of ACADM (P11310)
R17G (p.Arg17Gly) in ACADM (P11310) 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.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- gnomAD 1-75728419-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.42
- CADD 19.10
- PolyPhen-2 0.06
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available