G1378R (p.Gly1378Arg) variant of ABCC8 (Q09428)
G1378R (p.Gly1378Arg) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G1378R (p.Gly1378Arg) variant details
- p.Gly1378Arg
- rs925231098
- ClinGen CA379788454
- ClinVar RCV000669782
- ClinVar RCV000710385
- Pathogenic/Likely pathogenic
- Type 2 diabetes mellitus; Hereditary hyperinsulinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Type 2 diabetes mellitus; Hereditary hyperinsulinism; not provid)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Population evidence available
- Structural context available
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)
- Cited in: Genetic heterogeneity in familial hyperinsulinism. (PMID 9618169)