R825W (p.Arg825Trp) variant of ABCC8 (Q09428)
R825W (p.Arg825Trp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Permanent neonatal diabetes mellitus; not provided; Diabetes mellitus, transient. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R825W (p.Arg825Trp) variant details
- p.Arg825Trp
- rs779736828
- ClinGen CA5903132
- cosmic curated COSV56846
- ClinVar RCV001817843
- Pathogenic
- Permanent neonatal diabetes mellitus; not provided; Diabetes mellitus, transient
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.85
- AlphaMissense 0.74
- MetaLR 0.68
- MetaSVM 0.47
- CADD 34.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Permanent neonatal diabetes mellitus; not provided; Diabetes mel)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)