A26E (p.Ala26Glu) variant of ACADVL (P49748)
A26E (p.Ala26Glu) 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.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- gnomAD 17-7220136-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.17
- CADD 7.56
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available