Q13E (p.Gln13Glu) variant of ACADVL (P49748)
Q13E (p.Gln13Glu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q13E (p.Gln13Glu) variant details
- p.Gln13Glu
- gnomAD 17-7220021-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- CADD 18.30
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available