E109Q (p.Glu109Gln) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E109Q (p.Glu109Gln) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain risk allele in the context of Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E109Q (p.Glu109Gln) variant details
- p.Glu109Gln
- rs757044850
- ExAC rs757044850
- gnomAD rs757044850
- ClinGen CA8519115
- Uncertain risk allele
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.33
- MetaLR 0.93
- MetaSVM 0.91
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.39
- ClinVar: Uncertain risk allele (Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)