E44K (p.Glu44Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E44K (p.Glu44Lys) 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 Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs1362125211
- ClinGen CA398754352
- ClinVar RCV000787253
- TOPMed rs1362125211
- Uncertain significance
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.57
- MetaLR 0.92
- MetaSVM 0.94
- CADD 25.50
- PolyPhen-2 0.89
- SIFT 0.11
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)