C1163W (p.Cys1163Trp) variant of CFH (Complement factor H)
C1163W (p.Cys1163Trp) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atypical hemolytic-uremic syndrome. The record also includes variant effect predictions, published literature, and structural context.
C1163W (p.Cys1163Trp) variant details
- p.Cys1163Trp
- UniProt VAR 025878
- Likely pathogenic
- Atypical hemolytic-uremic syndrome
- Missense
- MetaLR 1.00
- MetaSVM 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Structural context available
- Cited in: Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the… (PMID 14583443)
- Cited in: Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PMID 10577907)