I125N (p.Ile125Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
I125N (p.Ile125Asn) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
I125N (p.Ile125Asn) variant details
- p.Ile125Asn
- rs2147575564
- Ensembl rs2147575564
- ClinGen CA398751692
- ClinVar RCV001665489
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- MutPred 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available