K71N (p.Lys71Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
K71N (p.Lys71Asn) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K71N (p.Lys71Asn) variant details
- p.Lys71Asn
- rs1442869406
- gnomAD rs1442869406
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available