S49C (p.Ser49Cys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S49C (p.Ser49Cys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Maturity-onset diabetes of the young; not provided. 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.
S49C (p.Ser49Cys) variant details
- p.Ser49Cys
- rs770078634
- ExAC rs770078634
- gnomAD rs770078634
- ClinGen CA8519147
- Uncertain significance/Uncertain risk allele
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 27.60
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance/Uncertain risk allele (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)