W978C (p.Trp978Cys) variant of CFH (Complement factor H)
W978C (p.Trp978Cys) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic, low penetrance in the context of Atypical hemolytic-uremic syndrome. The record also includes variant effect predictions, published literature, and structural context.
W978C (p.Trp978Cys) variant details
- p.Trp978Cys
- UniProt VAR 025870
- Likely pathogenic, low penetrance
- Atypical hemolytic-uremic syndrome
- Missense
- MetaLR 0.93
- MetaSVM 1.07
- SIFT 0.00
- ClinVar: Likely pathogenic, low penetrance (Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Structural context available
- Cited in: Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. (PMID 12960213)
- Cited in: Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PMID 10577907)