V38G (p.Val38Gly) variant of HSD17B3 (P37058)
V38G (p.Val38Gly) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V38G (p.Val38Gly) variant details
- p.Val38Gly
- ExAC rs755152747
- TOPMed rs755152747
- gnomAD rs755152747
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- MetaLR 0.43
- MetaSVM -0.72
- CADD 5.68
- PolyPhen-2 0.04
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available