F55L (p.Phe55Leu) variant of ACADM (P11310)
F55L (p.Phe55Leu) in ACADM (P11310) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- gnomAD rs1431180159
- Pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.92
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available