R592Q (p.Arg592Gln) variant of C3 (Complement C3)
R592Q (p.Arg592Gln) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Familial Atypical Hem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R592Q (p.Arg592Gln) variant details
- p.Arg592Gln
- rs121909583
- ClinGen CA257691
- ClinVar RCV000018589
- ClinVar RCV001507917
- Pathogenic/Likely pathogenic
- C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Familial Atypical Hem
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.33
- AlphaMissense 0.43
- MetaLR 0.52
- MetaSVM 0.17
- CADD 20.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Famil)
- EBI: Pathogenic (in AHUS5)
- UniProt: Pathogenic (in AHUS5)
- Most common in the African/African-American population (allele frequency 6e-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)