W1183R (p.Trp1183Arg) variant of CFH (Complement factor H)
W1183R (p.Trp1183Arg) 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.
W1183R (p.Trp1183Arg) variant details
- p.Trp1183Arg
- UniProt VAR 025880
- Likely pathogenic
- Atypical hemolytic-uremic syndrome
- Missense
- MetaLR 0.67
- MetaSVM 0.26
- SIFT 0.40
- ClinVar: Likely pathogenic (Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Structural context available
- Cited in: Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. (PMID 12020532)
- Cited in: Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. (PMID 12960213)