W1183L (p.Trp1183Leu) variant of CFH (Complement factor H)
W1183L (p.Trp1183Leu) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Atypical hemolytic-uremic syndrome; Factor H deficiency. The record also includes published literature and structural context.
W1183L (p.Trp1183Leu) variant details
- p.Trp1183Leu
- UniProt VAR 025879
- Pathogenic/Likely pathogenic
- Atypical hemolytic-uremic syndrome; Factor H deficiency
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Atypical hemolytic-uremic syndrome; Factor H deficiency)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Structural context available
- Cited in: Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. (PMID 11170895)
- Cited in: Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic… (PMID 11851332)