A7T (p.Ala7Thr) variant of ACADVL (P49748)
A7T (p.Ala7Thr) 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.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD 17-7217161-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available