I91V (p.Ile91Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
I91V (p.Ile91Val) 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 Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- rs1204310134
- ClinGen CA398753422
- ClinVar RCV004344291
- ClinVar RCV006561489
- Uncertain significance
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 24.20
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)