G285S (p.Gly285Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G285S (p.Gly285Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G285S (p.Gly285Ser) variant details
- p.Gly285Ser
- rs914046953
- Ensembl rs914046953
- ClinGen CA290282109
- ClinVar RCV000681856
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic (in RCAD)
- UniProt: Likely pathogenic (in RCAD)
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)