C17Y (p.Cys17Tyr) variant of HSD17B3 (P37058)
C17Y (p.Cys17Tyr) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- TOPMed rs868469733
- gnomAD rs868469733
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.48
- MetaLR 0.41
- MetaSVM -0.39
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available