R1182Q (p.Arg1182Gln) variant of ABCC8 (Q09428)
R1182Q (p.Arg1182Gln) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1; not provided; Permanent neonatal dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R1182Q (p.Arg1182Gln) variant details
- p.Arg1182Gln
- rs193922400
- ClinGen CA207783
- ClinVar RCV000193953
- ClinVar RCV001388602
- Pathogenic/Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1; not provided; Permanent neonatal dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.77
- CADD 25.80
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1; not provided; Perman)
- EBI: Pathogenic (in TNDM2)
- UniProt: Pathogenic (in TNDM2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PMID 16885549)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)