R841G (p.Arg841Gly) variant of ABCC8 (Q09428)
R841G (p.Arg841Gly) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R841G (p.Arg841Gly) variant details
- p.Arg841Gly
- rs1484689392
- ClinGen CA379807481
- ClinVar RCV001978196
- ClinVar RCV005042650
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.91
- CADD 26.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, p)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Clinical features of 52 neonates with hyperinsulinism. (PMID 10202168)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)