L39F (p.Leu39Phe) variant of INS (Insulin)
L39F (p.Leu39Phe) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 10. The record also includes published literature and structural context.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- rs2133676660
- ClinGen CA379121698
- ClinVar RCV002466269
- Ensembl rs2133676660
- Likely pathogenic
- Maturity-onset diabetes of the young type 10
- Missense
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 10)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)