P52H (p.Pro52His) variant of INS (Insulin)
P52H (p.Pro52His) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young type 10. The record also includes published literature and structural context.
P52H (p.Pro52His) variant details
- p.Pro52His
- rs145038693
- ClinGen CA379121410
- ClinVar RCV002225237
- ESP rs145038693
- Uncertain significance
- Maturity-onset diabetes of the young type 10
- Missense
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 10)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)