R1215G (p.Arg1215Gly) variant of CFH (Complement factor H)
R1215G (p.Arg1215Gly) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atypical hemolytic-uremic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R1215G (p.Arg1215Gly) variant details
- p.Arg1215Gly
- rs121913051
- UniProt VAR 025886
- Pathogenic
- Atypical hemolytic-uremic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.50
- CADD 22.70
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Pathogenic (Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic… (PMID 11851332)
- Cited in: Genetic studies into inherited and sporadic hemolytic uremic syndrome. (PMID 9551389)