R1493W (p.Arg1493Trp) variant of ABCC8 (Q09428)
R1493W (p.Arg1493Trp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R1493W (p.Arg1493Trp) variant details
- p.Arg1493Trp
- rs28936371
- ClinGen CA254633
- ClinVar RCV000009664
- ClinVar RCV000710390
- Pathogenic
- Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitus; Diabetes mell
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.93
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitu)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Clinical features of 52 neonates with hyperinsulinism. (PMID 10202168)
- Cited in: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. (PMID 15579781)