A7R (p.Ala7Arg) variant of ACADVL (P49748)
A7R (p.Ala7Arg) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A7R (p.Ala7Arg) variant details
- p.Ala7Arg
- gnomAD 17-7217161-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available