A8E (p.Ala8Glu) variant of ACADVL (P49748)
A8E (p.Ala8Glu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 17-7217168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available