L12R (p.Leu12Arg) variant of ACADM (P11310)
L12R (p.Leu12Arg) in ACADM (P11310) is a protein-truncating 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.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 1-75728404-C-CGTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available