R137K (p.Arg137Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R137K (p.Arg137Lys) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R137K (p.Arg137Lys) variant details
- p.Arg137Lys
- rs2147575425
- ClinGen CA398751552
- ClinVar RCV002052103
- Ensembl rs2147575425
- Uncertain significance
- Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Type 2 diabetes mellitus)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)