L286P (p.Leu286Pro) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L286P (p.Leu286Pro) 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 0.86 / 1. The record also includes published literature and structural context.
L286P (p.Leu286Pro) variant details
- p.Leu286Pro
- rs2147545592
- Ensembl rs2147545592
- ClinGen CA398746965
- ClinVar RCV001823459
- Uncertain significance
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 1.00
- MutPred 0.47
- ClinVar: Uncertain significance (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)