E83G (p.Glu83Gly) variant of HSD17B3 (P37058)
E83G (p.Glu83Gly) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E83G (p.Glu83Gly) variant details
- p.Glu83Gly
- TOPMed rs1332228281
- gnomAD rs1332228281
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.44
- MetaLR 0.76
- MetaSVM 0.49
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available