S115N (p.Ser115Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S115N (p.Ser115Asn) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
S115N (p.Ser115Asn) variant details
- p.Ser115Asn
- rs193922487
- Ensembl rs193922487
- ClinGen CA214357
- ClinVar RCV000030527
- Conflicting interpretations
- Maturity-onset diabetes of the young; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.13
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 0.85
- MutPred 0.36
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; Renal cysts and diabetes s)
- 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)