V110G (p.Val110Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V110G (p.Val110Gly) 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 0.97 / 1. The record also includes published literature and structural context.
V110G (p.Val110Gly) variant details
- p.Val110Gly
- rs894213416
- ClinGen CA290293036
- ClinVar RCV000787233
- UniProt VAR 046015
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.94
- MutPred 0.95
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. (PMID 15930087)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)