V21I (p.Val21Ile) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V21I (p.Val21Ile) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- rs1304695155
- ClinGen CA398754820
- ClinVar RCV000519912
- ClinVar RCV002464245
- Uncertain significance/Uncertain risk allele
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 21.20
- PolyPhen-2 0.35
- SIFT 0.08
- ClinVar: Uncertain significance/Uncertain risk allele (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)