A3E (p.Ala3Glu) variant of ACADVL (P49748)
A3E (p.Ala3Glu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 17-7219992-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.30
- CADD 17.90
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available