A36E (p.Ala36Glu) variant of ACADVL (P49748)
A36E (p.Ala36Glu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A36E (p.Ala36Glu) variant details
- p.Ala36Glu
- gnomAD 17-7217797-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available