P52L (p.Pro52Leu) variant of INS (Insulin)
P52L (p.Pro52Leu) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Maturity-onset diabetes of the young type 10. The record also includes published literature and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- rs145038693
- ClinGen CA379121407
- ClinVar RCV001197790
- ESP rs145038693
- Pathogenic
- Maturity-onset diabetes of the young type 10
- Missense
- ClinVar: Pathogenic (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)