C673Y (p.Cys673Tyr) variant of CFH (Complement factor H)
C673Y (p.Cys673Tyr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
C673Y (p.Cys673Tyr) variant details
- p.Cys673Tyr
- rs1391815797
- UniProt VAR 031983
- Likely pathogenic, low penetrance
- Atypical hemolytic-uremic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic, low penetrance (Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Structural context available
- Cited in: Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative… (PMID 14978182)
- Cited in: Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PMID 10577907)