D111G (p.Asp111Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D111G (p.Asp111Gly) 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; Nonpapillary renal cell carcinoma; Type 2 dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D111G (p.Asp111Gly) variant details
- p.Asp111Gly
- rs1311605355
- ClinGen CA398752970
- ClinVar RCV002618481
- ClinVar RCV003403877
- Uncertain significance
- Renal cysts and diabetes syndrome; Nonpapillary renal cell carcinoma; Type 2 dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 32.00
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome; Nonpapillary renal cell carci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)