C9R (p.Cys9Arg) variant of ACADM (P11310)
C9R (p.Cys9Arg) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- ExAC rs769935756
- gnomAD rs769935756
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.49
- CADD 20.40
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 9e-05)
- Structural context available