F48L (p.Phe48Leu) variant of ACADM (P11310)
F48L (p.Phe48Leu) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- Ensembl rs1557444322
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available