K4R (p.Lys4Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
K4R (p.Lys4Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- rs768909646
- ClinGen CA398755386
- ClinVar RCV003228641
- ExAC rs768909646
- Uncertain significance
- Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 22.90
- PolyPhen-2 0.37
- SIFT 0.39
- ClinVar: Uncertain significance (Type 2 diabetes mellitus)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)