A1184E (p.Ala1184Glu) variant of ABCC8 (Q09428)
A1184E (p.Ala1184Glu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1. 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.
A1184E (p.Ala1184Glu) variant details
- p.Ala1184Glu
- rs137852675
- ClinGen CA218417179
- ClinVar RCV003322255
- UniProt VAR 072944
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.79
- CADD 24.40
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Likely pathogenic (in PNDM3)
- UniProt: Likely pathogenic (in PNDM3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)
- Cited in: A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (PMID 16613899)