G52R (p.Gly52Arg) variant of ABCC8 (Q09428)
G52R (p.Gly52Arg) 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 0.74 / 1. The record also includes population frequency data and structural context.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- ExAC rs766663590
- TOPMed rs766663590
- gnomAD rs766663590
- Uncertain significance
- Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.74
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypog)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available