K4T (p.Lys4Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
K4T (p.Lys4Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K4T (p.Lys4Thr) variant details
- p.Lys4Thr
- ExAC rs768909646
- TOPMed rs768909646
- gnomAD rs768909646
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 24.30
- PolyPhen-2 0.54
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available