E105G (p.Glu105Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E105G (p.Glu105Gly) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndrome; Type 2 dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E105G (p.Glu105Gly) variant details
- p.Glu105Gly
- rs375625110
- ClinGen CA8519116
- ClinVar RCV000993277
- ClinVar RCV002505508
- Conflicting interpretations
- Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndrome; Type 2 dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Nonpapillary renal cell carcinoma; Renal cysts and diabetes synd)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)