I93T (p.Ile93Thr) variant of ABCC8 (Q09428)
I93T (p.Ile93Thr) 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 0.63 / 1. The record also includes population frequency data and structural context.
I93T (p.Ile93Thr) variant details
- p.Ile93Thr
- ExAC rs758604661
- gnomAD rs758604661
- Uncertain significance
- Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.67
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.00
- 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 2.7e-06)
- Structural context available