E109K (p.Glu109Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E109K (p.Glu109Lys) 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 not provided; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- rs757044850
- ClinGen CA398753017
- ClinVar RCV000591875
- ClinVar RCV005645107
- Uncertain significance
- not provided; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.33
- MetaLR 0.93
- MetaSVM 0.91
- PolyPhen-2 0.99
- MutPred 0.42
- ClinVar: Uncertain significance (not provided; Renal cysts and diabetes syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)