A24V (p.Ala24Val) variant of INS (Insulin)
A24V (p.Ala24Val) 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; not provided. The record also includes structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs80356663
- ClinGen CA214065
- ClinVar RCV000030071
- ClinVar RCV001818190
- Likely pathogenic
- Neonatal diabetes mellitus; not provided
- Missense
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus; not provided)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Structural context available