G16A (p.Gly16Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G16A (p.Gly16Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- gnomAD rs1278618444
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- ESM-1b 1.00
- AlphaMissense 0.87
- Structural context available