C17F (p.Cys17Phe) variant of HSD17B3 (P37058)
C17F (p.Cys17Phe) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C17F (p.Cys17Phe) variant details
- p.Cys17Phe
- TOPMed rs868469733
- gnomAD rs868469733
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.37
- MetaLR 0.43
- MetaSVM -0.32
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available