R592W (p.Arg592Trp) variant of C3 (Complement C3)
R592W (p.Arg592Trp) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Atypical hemolytic-ur. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R592W (p.Arg592Trp) variant details
- p.Arg592Trp
- rs771353792
- ClinGen CA9129335
- ClinVar RCV003988253
- ClinVar RCV004596614
- Likely pathogenic
- C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Atypical hemolytic-ur
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.44
- MetaLR 0.35
- MetaSVM -0.33
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.11
- ClinVar: Likely pathogenic (C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Atypi)
- EBI: Pathogenic (in AHUS5)
- UniProt: Pathogenic (in AHUS5)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. (PMID 18796626)
- Cited in: Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. (PMID 19821824)