N67K (p.Asn67Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
N67K (p.Asn67Lys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N67K (p.Asn67Lys) variant details
- p.Asn67Lys
- TOPMed rs1404879910
- gnomAD rs1404879910
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available