C8Y (p.Cys8Tyr) variant of ACADM (P11310)
C8Y (p.Cys8Tyr) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- gnomAD 1-75724810-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.44
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available