G33R (p.Gly33Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G33R (p.Gly33Arg) 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.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- ExAC rs749921409
- gnomAD rs749921409
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.76
- MetaSVM 0.68
- CADD 26.90
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available