D58G (p.Asp58Gly) variant of HSD17B3 (P37058)
D58G (p.Asp58Gly) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D58G (p.Asp58Gly) variant details
- p.Asp58Gly
- rs765832166
- ExAC rs765832166
- TOPMed rs765832166
- gnomAD rs765832166
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.78
- MetaLR 0.77
- MetaSVM 0.56
- CADD 24.80
- PolyPhen-2 0.58
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available