R1393C (p.Arg1393Cys) variant of ABCC8 (Q09428)
R1393C (p.Arg1393Cys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3; Hyperinsu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1393C (p.Arg1393Cys) variant details
- p.Arg1393Cys
- rs776610373
- ClinGen CA5902548
- NCI-TCGA Cosmic COSV5685
- cosmic curated COSV56855
- Pathogenic/Likely pathogenic
- Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3; Hyperinsu
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.89
- AlphaMissense 0.50
- MetaLR 0.90
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Leucine-induced hypoglycemia; Diabetes mellitus, permanent neona)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)