G25S (p.Gly25Ser) variant of ABCC8 (Q09428)
G25S (p.Gly25Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- gnomAD rs1428579443
- Uncertain significance
- Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.71
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypog)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available