R23M (p.Arg23Met) variant of ACADVL (P49748)
R23M (p.Arg23Met) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R23M (p.Arg23Met) variant details
- p.Arg23Met
- gnomAD 17-7217767-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 14.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available