L27M (p.Leu27Met) variant of ACADVL (P49748)
L27M (p.Leu27Met) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 17-7217763-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available