P47L (p.Pro47Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P47L (p.Pro47Leu) 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; Nonpapillary renal cell carcinoma; Renal cysts and dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs193922483
- ExAC rs193922483
- TOPMed rs193922483
- gnomAD rs193922483
- Uncertain significance
- Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma; Renal cysts and dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 25.00
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma; Ren)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)