R17L (p.Arg17Leu) variant of ACADM (P11310)
R17L (p.Arg17Leu) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- gnomAD 1-75728420-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.38
- CADD 9.99
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available