G2R (p.Gly2Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G2R (p.Gly2Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- TOPMed rs1754152891
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- ESM-1b 1.00
- AlphaMissense 0.23
- Structural context available