G92S (p.Gly92Ser) variant of ABCC8 (Q09428)
G92S (p.Gly92Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G92S (p.Gly92Ser) variant details
- p.Gly92Ser
- ExAC rs780870376
- TOPMed rs780870376
- gnomAD rs780870376
- Uncertain significance
- not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.89
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hyperinsulinemic hypoglycemia, familial, 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available