A17E (p.Ala17Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A17E (p.Ala17Glu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- gnomAD 5-119452770-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.24
- MetaLR 0.27
- MetaSVM -0.73
- CADD 17.40
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available