G49V (p.Gly49Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G49V (p.Gly49Val) 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 structural context.
G49V (p.Gly49Val) variant details
- p.Gly49Val
- TOPMed rs1748308164
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.78
- MetaSVM 0.71
- SIFT 0.02
- Structural context available