I134N (p.Ile134Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
I134N (p.Ile134Asn) 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.
I134N (p.Ile134Asn) variant details
- p.Ile134Asn
- rs2147575462
- ClinGen CA398751583
- ClinVar RCV001977148
- Ensembl rs2147575462
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- MutPred 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available