L74W (p.Leu74Trp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L74W (p.Leu74Trp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L74W (p.Leu74Trp) variant details
- p.Leu74Trp
- rs193922486
- ClinGen CA398753761
- ClinVar RCV002464978
- ClinVar RCV004753563
- Pathogenic
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.38
- MetaLR 0.95
- MetaSVM 1.05
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.18
- ClinVar: Pathogenic (Maturity-onset diabetes of the young)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)