Q30E (p.Gln30Glu) variant of ACADVL (P49748)
Q30E (p.Gln30Glu) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q30E (p.Gln30Glu) variant details
- p.Gln30Glu
- rs1567555682
- gnomAD 17-7217751-GCA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 23.40
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available