R1214W (p.Arg1214Trp) variant of ABCC8 (Q09428)
R1214W (p.Arg1214Trp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperinsulinism; Hereditary hyperinsulinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R1214W (p.Arg1214Trp) variant details
- p.Arg1214Trp
- rs139964066
- ClinGen CA5902756
- cosmic curated COSV56851
- ClinVar RCV000223959
- Pathogenic
- Familial hyperinsulinism; Hereditary hyperinsulinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial hyperinsulinism; Hereditary hyperinsulinism; not provid)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- 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)