S1191L (p.Ser1191Leu) variant of CFH (Complement factor H)
S1191L (p.Ser1191Leu) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CFH-related disorder; Hemolytic uremic syndrome, atypical, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S1191L (p.Ser1191Leu) variant details
- p.Ser1191Leu
- rs460897
- UniProt VAR 019408
- Pathogenic/Likely pathogenic
- CFH-related disorder; Hemolytic uremic syndrome, atypical, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.26
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (CFH-related disorder; Hemolytic uremic syndrome, atypical, susce)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PMID 10577907)
- Cited in: Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic… (PMID 11851332)