R168C (p.Arg168Cys) variant of ABCC8 (Q09428)
R168C (p.Arg168Cys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1; Hereditary hyperinsulinism; Diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R168C (p.Arg168Cys) variant details
- p.Arg168Cys
- rs756823374
- ClinGen CA5903857
- ClinVar RCV001951354
- ClinVar RCV003321889
- Pathogenic/Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1; Hereditary hyperinsulinism; Diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1; Hereditary hyperinsu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)