G42R (p.Gly42Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G42R (p.Gly42Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- Ensembl rs1748303750
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.72
- MetaSVM 0.60
- CADD 30.00
- Population evidence available
- Structural context available