R1418C (p.Arg1418Cys) variant of ABCC8 (Q09428)
R1418C (p.Arg1418Cys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary hyperinsulinism; Familial hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R1418C (p.Arg1418Cys) variant details
- p.Arg1418Cys
- rs1468762603
- ClinGen CA379786713
- ClinVar RCV001817825
- ClinVar RCV005432802
- Pathogenic/Likely pathogenic
- not provided; Hereditary hyperinsulinism; Familial hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary hyperinsulinism; Familial hyperinsulini)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)