G33E (p.Gly33Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G33E (p.Gly33Glu) 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 population frequency data and structural context.
G33E (p.Gly33Glu) variant details
- p.Gly33Glu
- ExAC rs780129984
- gnomAD rs780129984
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 12.30
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available