E1506K (p.Glu1506Lys) variant of ABCC8 (Q09428)
E1506K (p.Glu1506Lys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
E1506K (p.Glu1506Lys) variant details
- p.Glu1506Lys
- rs137852671
- ClinGen CA248483
- ClinVar RCV000009665
- ClinVar RCV000201911
- Pathogenic
- not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. (PMID 11018078)
- Cited in: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (PMID 12364426)