E501K (p.Glu501Lys) variant of ABCC8 (Q09428)
E501K (p.Glu501Lys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hyperinsulinism; Type 2 diabetes mellitus; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E501K (p.Glu501Lys) variant details
- p.Glu501Lys
- rs372307320
- ClinGen CA5903548
- cosmic curated COSV56858
- ClinVar RCV000674549
- Pathogenic/Likely pathogenic
- Familial hyperinsulinism; Type 2 diabetes mellitus; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.95
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperinsulinism; Type 2 diabetes mellitus; not provided)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine… (PMID 15562009)
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)