R295C (p.Arg295Cys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R295C (p.Arg295Cys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Maturity-onset diabetes of the young; Renal cysts and diabetes syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R295C (p.Arg295Cys) variant details
- p.Arg295Cys
- rs2511801729
- ClinGen CA398746849
- ClinVar RCV000787123
- ClinVar RCV003106061
- Pathogenic/Likely pathogenic
- not provided; Maturity-onset diabetes of the young; Renal cysts and diabetes syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Maturity-onset diabetes of the young; Renal cysts)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of… (PMID 16249435)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)