D1119G (p.Asp1119Gly) variant of CFH (Complement factor H)
D1119G (p.Asp1119Gly) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely pathogenic, low penetra in the context of Atypical hemolytic-uremic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D1119G (p.Asp1119Gly) variant details
- p.Asp1119Gly
- rs575109631
- UniProt VAR 025874
- Likely pathogenic/Likely pathogenic, low penetra
- Atypical hemolytic-uremic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.52
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Likely pathogenic/Likely pathogenic, low penetra (Atypical hemolytic-uremic syndrome; not provided)
- EBI: Pathogenic (in CFHD)
- UniProt: Pathogenic (in CFHD)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. (PMID 11170896)
- Cited in: Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic… (PMID 11851332)