V61G (p.Val61Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
V61G (p.Val61Gly) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Monogenic diabetes; not specified; Maturity-onset diabetes of the young. 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.
V61G (p.Val61Gly) variant details
- p.Val61Gly
- rs147816724
- ClinGen CA8519137
- ClinVar RCV000440404
- ClinVar RCV000664148
- Conflicting interpretations
- Monogenic diabetes; not specified; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Monogenic diabetes; not specified; Maturity-onset diabetes of th)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. (PMID 15930087)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)