G68R (p.Gly68Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G68R (p.Gly68Arg) 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; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- rs767576616
- ClinGen CA8519133
- ClinVar RCV001248884
- ClinVar RCV002570390
- Uncertain significance
- not provided; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)