S12L (p.Ser12Leu) variant of ABCC8 (Q09428)
S12L (p.Ser12Leu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- rs1283621955
- ClinGen CA379790233
- ClinVar RCV002254253
- ClinVar RCV002254254
- Uncertain significance
- Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.18
- MetaLR 0.64
- MetaSVM 0.16
- PolyPhen-2 0.61
- SIFT 0.07
- MutPred 0.35
- ClinVar: Uncertain significance (Transitory neonatal diabetes mellitus; Maturity-onset diabetes o)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)