F48S (p.Phe48Ser) variant of INS (Insulin)
F48S (p.Phe48Ser) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperproinsulinemia. The record also includes published literature and structural context.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- rs80356668
- ClinGen CA123076
- ClinVar RCV000014307
- UniProt VAR 003972
- Pathogenic
- Hyperproinsulinemia
- Missense
- ClinVar: Pathogenic (Hyperproinsulinemia)
- EBI: Pathogenic (in HPRI)
- UniProt: Pathogenic (in HPRI)
- Structural context available
- Cited in: Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin. (PMID 6312455)
- Cited in: Three mutant insulins in man. (PMID 6339950)