K117E (p.Lys117Glu) variant of HSD17B3 (P37058)
K117E (p.Lys117Glu) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K117E (p.Lys117Glu) variant details
- p.Lys117Glu
- TOPMed rs1474582477
- gnomAD rs1474582477
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.39
- MetaLR 0.29
- MetaSVM -0.75
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available