D82N (p.Asp82Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D82N (p.Asp82Asn) 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 Monogenic diabetes; not specified; 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.
D82N (p.Asp82Asn) variant details
- p.Asp82Asn
- rs140562402
- 1000Genomes rs140562402
- ESP rs140562402
- ExAC rs140562402
- Conflicting interpretations
- Monogenic diabetes; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 28.80
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Monogenic diabetes; not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)