C26S (p.Cys26Ser) variant of ABCC8 (Q09428)
C26S (p.Cys26Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, transient neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C26S (p.Cys26Ser) variant details
- p.Cys26Ser
- rs1462559571
- ClinGen CA379790058
- ClinVar RCV001817862
- ClinVar RCV001844417
- Conflicting interpretations
- Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, transient neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)