L65F (p.Leu65Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L65F (p.Leu65Phe) 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; Type 2 diabetes mellitus; Nonpapillary renal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L65F (p.Leu65Phe) variant details
- p.Leu65Phe
- gnomAD rs1336990799
- Uncertain significance
- Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 26.80
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Non)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available