H34P (p.His34Pro) variant of INS (Insulin)
H34P (p.His34Pro) 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 structural context.
H34P (p.His34Pro) variant details
- p.His34Pro
- rs1564912274
- ClinGen CA379121774
- ClinVar RCV002052032
- Ensembl rs1564912274
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic (in HPRI)
- UniProt: Likely pathogenic (in HPRI)
- Structural context available