A7G (p.Ala7Gly) variant of ACADVL (P49748)
A7G (p.Ala7Gly) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- gnomAD 17-7217165-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available