R78G (p.Arg78Gly) variant of CFH (Complement factor H)
R78G (p.Arg78Gly) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Factor H deficiency; Atypical hemolytic-uremic syndrome; Hemolytic uremic syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R78G (p.Arg78Gly) variant details
- p.Arg78Gly
- UniProt VAR 025864
- Conflicting interpretations
- Factor H deficiency; Atypical hemolytic-uremic syndrome; Hemolytic uremic syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Factor H deficiency; Atypical hemolytic-uremic syndrome; Hemolyt)
- EBI: Pathogenic (in AHUS1)
- UniProt: Pathogenic (in AHUS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the… (PMID 14583443)
- Cited in: Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PMID 10577907)