A34E (p.Ala34Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A34E (p.Ala34Glu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- gnomAD 5-119456357-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.68
- MetaSVM 0.58
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available