R127L (p.Arg127Leu) variant of CFH (Complement factor H)
R127L (p.Arg127Leu) in CFH (Complement factor H) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Factor H deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R127L (p.Arg127Leu) variant details
- p.Arg127Leu
- rs121913058
- UniProt VAR 031978
- Likely pathogenic
- Factor H deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.50
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Factor H deficiency)
- EBI: Pathogenic (in CFHD)
- UniProt: Pathogenic (in CFHD)
- Population evidence available
- 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)