G1478R (p.Gly1478Arg) variant of ABCC8 (Q09428)
G1478R (p.Gly1478Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hyperinsulinism due to SUR1 deficiency; Type 2 diabetes melli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G1478R (p.Gly1478Arg) variant details
- p.Gly1478Arg
- rs72559715
- ClinGen CA379783645
- ClinVar RCV004526403
- UniProt VAR 008656
- Pathogenic
- Autosomal dominant hyperinsulinism due to SUR1 deficiency; Type 2 diabetes melli
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.94
- CADD 28.30
- ClinVar: Pathogenic (Familial hyperinsulinism)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Adenosine diphosphate as an intracellular regulator of insulin secretion. (PMID 8650576)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)