A7E (p.Ala7Glu) variant of ACADVL (P49748)
A7E (p.Ala7Glu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- gnomAD 17-7217165-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available