A17G (p.Ala17Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A17G (p.Ala17Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- TOPMed rs1244855468
- gnomAD rs1244855468
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 21.60
- PolyPhen-2 1.00
- SIFT 0.56
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available