G287V (p.Gly287Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G287V (p.Gly287Val) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes published literature and structural context.
G287V (p.Gly287Val) variant details
- p.Gly287Val
- rs2033693875
- ClinGen CA398746950
- ClinVar RCV000787126
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0812
- AlphaMissense 0.08
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)