R1420C (p.Arg1420Cys) variant of ABCC8 (Q09428)
R1420C (p.Arg1420Cys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitus; Diabetes mell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1420C (p.Arg1420Cys) variant details
- p.Arg1420Cys
- rs28938469
- ClinGen CA254631
- cosmic curated COSV56847
- ClinVar RCV000009663
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitus; Diabetes mell
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitu)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Clinical features of 52 neonates with hyperinsulinism. (PMID 10202168)
- Cited in: Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding… (PMID 10615958)