G1400R (p.Gly1400Arg) variant of ABCC8 (Q09428)
G1400R (p.Gly1400Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Type 2 diabetes mellitus; Hereditary hyperinsulinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G1400R (p.Gly1400Arg) variant details
- p.Gly1400Arg
- rs137852676
- ClinGen CA260102
- ClinVar RCV000009657
- ClinVar RCV000029263
- Pathogenic/Likely pathogenic
- Type 2 diabetes mellitus; Hereditary hyperinsulinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- REVEL 0.99
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Type 2 diabetes mellitus; Hereditary hyperinsulinism; not provid)
- EBI: Pathogenic (in HHF1 and PNDM3)
- UniProt: Pathogenic (in HHF1 and PNDM3)
- Most common in the REMAINING population (allele frequency 0.00014)
- Structural context available
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)