L27E (p.Leu27Glu) variant of ACADVL (P49748)
L27E (p.Leu27Glu) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L27E (p.Leu27Glu) variant details
- p.Leu27Glu
- rs1567555710
- gnomAD 17-7217759-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 24.50
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available