L12F (p.Leu12Phe) variant of ACADM (P11310)
L12F (p.Leu12Phe) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD 1-75728397-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 10.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available