R526C (p.Arg526Cys) variant of ABCC8 (Q09428)
R526C (p.Arg526Cys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hyperinsulinism; Type 2 diabetes mellitus; Hereditary hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R526C (p.Arg526Cys) variant details
- p.Arg526Cys
- rs751279984
- ClinGen CA5903524
- cosmic curated COSV56849
- ClinVar RCV000669267
- Pathogenic/Likely pathogenic
- Familial hyperinsulinism; Type 2 diabetes mellitus; Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.81
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperinsulinism; Type 2 diabetes mellitus; Hereditary h)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)