E149D (p.Glu149Asp) variant of HSD17B3 (P37058)
E149D (p.Glu149Asp) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E149D (p.Glu149Asp) variant details
- p.Glu149Asp
- TOPMed rs1253596999
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.33
- MetaLR 0.27
- MetaSVM -0.79
- CADD 0.06
- PolyPhen-2 0.01
- SIFT 0.63
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available