D85G (p.Asp85Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D85G (p.Asp85Gly) 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 not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D85G (p.Asp85Gly) variant details
- p.Asp85Gly
- rs984116301
- ClinGen CA290293133
- ClinVar RCV000730141
- ClinVar RCV002249441
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.75
- MetaLR 0.92
- MetaSVM 0.91
- PolyPhen-2 0.12
- MutPred 0.48
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)