D87N (p.Asp87Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D87N (p.Asp87Asn) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D87N (p.Asp87Asn) variant details
- p.Asp87Asn
- TOPMed rs1391196377
- gnomAD rs1391196377
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 23.40
- PolyPhen-2 0.16
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available