R304G (p.Arg304Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R304G (p.Arg304Gly) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely risk allele in the context of Renal cysts and diabetes syndrome; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R304G (p.Arg304Gly) variant details
- p.Arg304Gly
- rs2033692285
- Ensembl rs2033692285
- ClinGen CA398746758
- ClinVar RCV001281138
- Likely pathogenic/Likely risk allele
- Renal cysts and diabetes syndrome; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.99
- MutPred 0.73
- ClinVar: Likely pathogenic/Likely risk allele (Renal cysts and diabetes syndrome; Maturity-onset diabetes of th)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)