G20R (p.Gly20Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G20R (p.Gly20Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely risk allele in the context of Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs1052557621
- ClinGen CA290293293
- ClinVar RCV002465370
- TOPMed rs1052557621
- Likely risk allele
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely risk allele (Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)