G1116R (p.Gly1116Arg) variant of C3 (Complement C3)
G1116R (p.Gly1116Arg) in C3 (Complement C3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Atypical hemolytic-uremic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G1116R (p.Gly1116Arg) variant details
- p.Gly1116Arg
- Ensembl rs1918202818
- Likely pathogenic
- Atypical hemolytic-uremic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Atypical hemolytic-uremic syndrome)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available