S63I (p.Ser63Ile) variant of ABCC8 (Q09428)
S63I (p.Ser63Ile) in ABCC8 (Q09428) 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. The record also includes published literature and structural context.
S63I (p.Ser63Ile) variant details
- p.Ser63Ile
- rs2496919339
- ClinGen CA379788197
- ClinVar RCV003577095
- Uncertain significance
- Maturity-onset diabetes of the young
- Missense
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)