C8F (p.Cys8Phe) variant of ACADM (P11310)
C8F (p.Cys8Phe) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C8F (p.Cys8Phe) variant details
- p.Cys8Phe
- gnomAD 1-75724810-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.43
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available