Y108D (p.Tyr108Asp) variant of INS (Insulin)
Y108D (p.Tyr108Asp) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus. The record also includes variant effect predictions and structural context.
Y108D (p.Tyr108Asp) variant details
- p.Tyr108Asp
- rs2133672778
- ClinGen CA379120673
- ClinVar RCV002052030
- Ensembl rs2133672778
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- MutPred 0.63
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic (in PNDM4)
- UniProt: Likely pathogenic (in PNDM4)
- Structural context available