R1214Q (p.Arg1214Gln) variant of ABCC8 (Q09428)
R1214Q (p.Arg1214Gln) 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; not provided; Type 2 diabetes mellitus. 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.
R1214Q (p.Arg1214Gln) variant details
- p.Arg1214Gln
- rs367850779
- ClinGen CA5902755
- ClinVar RCV000779674
- ClinVar RCV001277187
- Pathogenic/Likely pathogenic
- Familial hyperinsulinism; not provided; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.97
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperinsulinism; not provided; Type 2 diabetes mellitus)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine… (PMID 15562009)
- Cited in: Genetic heterogeneity in familial hyperinsulinism. (PMID 9618169)