A28G (p.Ala28Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A28G (p.Ala28Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- TOPMed rs1034994864
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 13.10
- PolyPhen-2 0.44
- SIFT 0.35
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available