R1493Q (p.Arg1493Gln) variant of ABCC8 (Q09428)
R1493Q (p.Arg1493Gln) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary hyperinsulinism; Hyperinsulinemic hypoglycemia, familial, 1; not prov. 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.
R1493Q (p.Arg1493Gln) variant details
- p.Arg1493Gln
- rs746480424
- ClinGen CA16041433
- ClinVar RCV000411593
- ClinVar RCV001383606
- Pathogenic/Likely pathogenic
- Hereditary hyperinsulinism; Hyperinsulinemic hypoglycemia, familial, 1; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.50
- PolyPhen-2 0.95
- ClinVar: Pathogenic/Likely pathogenic (Hereditary hyperinsulinism; Hyperinsulinemic hypoglycemia, famil)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)