E81D (p.Glu81Asp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E81D (p.Glu81Asp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E81D (p.Glu81Asp) variant details
- p.Glu81Asp
- TOPMed rs2034113846
- gnomAD rs2034113846
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available