C8R (p.Cys8Arg) variant of ACADM (P11310)
C8R (p.Cys8Arg) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- ExAC rs746244899
- gnomAD rs746244899
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.34
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available