C325Y (p.Cys325Tyr) variant of CFH (Complement factor H)
C325Y (p.Cys325Tyr) 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; Age related macular degeneration 4. The record also includes variant effect predictions, published literature, and structural context.
C325Y (p.Cys325Tyr) variant details
- p.Cys325Tyr
- UniProt VAR 063648
- Likely pathogenic, low penetrance
- Atypical hemolytic-uremic syndrome; Age related macular degeneration 4
- Missense
- MetaLR 0.99
- MetaSVM 0.98
- SIFT 0.04
- ClinVar: Likely pathogenic, low penetrance (Atypical hemolytic-uremic syndrome; Age related macular degenera)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Structural context available
- Cited in: Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID 20513133)
- Cited in: Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PMID 10577907)