C431S (p.Cys431Ser) variant of CFH (Complement factor H)
C431S (p.Cys431Ser) 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; Factor H deficiency; Age related macular deg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C431S (p.Cys431Ser) variant details
- p.Cys431Ser
- rs121913056
- UniProt VAR 031981
- Likely pathogenic, low penetrance
- Atypical hemolytic-uremic syndrome; Factor H deficiency; Age related macular deg
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.80
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic, low penetrance (Atypical hemolytic-uremic syndrome; Factor H deficiency; Age rel)
- EBI: Pathogenic (in CFHD)
- UniProt: Pathogenic (in CFHD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative… (PMID 14978182)
- Cited in: Molecular basis for factor H and FHL-1 deficiency in an Italian family. (PMID 10803850)