E118G (p.Glu118Gly) variant of HSD17B3 (P37058)
E118G (p.Glu118Gly) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E118G (p.Glu118Gly) variant details
- p.Glu118Gly
- TOPMed rs1825474809
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.54
- MetaLR 0.78
- MetaSVM 0.62
- CADD 24.50
- PolyPhen-2 0.68
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available