R74W (p.Arg74Trp) variant of ABCC8 (Q09428)
R74W (p.Arg74Trp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCC8-related disorder; Hereditary hyperinsulinism; Diabetes mellitus, transient. 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.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs201682634
- ClinGen CA5903947
- ClinVar RCV000409175
- ClinVar RCV001203709
- Pathogenic/Likely pathogenic
- ABCC8-related disorder; Hereditary hyperinsulinism; Diabetes mellitus, transient
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCC8-related disorder; Hereditary hyperinsulinism; Diabetes mel)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)