G7R (p.Gly7Arg) variant of ABCC8 (Q09428)
G7R (p.Gly7Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCC8-related disorder; Hyperinsulinemic hypoglycemia, familial, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs781059815
- ClinGen CA218464119
- ClinVar RCV003058290
- ClinVar RCV003317639
- Likely pathogenic
- ABCC8-related disorder; Hyperinsulinemic hypoglycemia, familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (ABCC8-related disorder; Hyperinsulinemic hypoglycemia, familial,)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)