A28D (p.Ala28Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A28D (p.Ala28Asp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 5-119456339-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 10.90
- PolyPhen-2 0.25
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available