R102G (p.Arg102Gly) variant of C3 (Complement C3)
R102G (p.Arg102Gly) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Complement component. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R102G (p.Arg102Gly) variant details
- p.Arg102Gly
- rs2512271118
- ClinGen CA2697556137
- ClinVar RCV003578778
- Uncertain significance
- C3 glomerulonephritis; Atypical hemolytic-uremic syndrome; Complement component
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.07
- AlphaMissense 0.95
- MetaLR 0.08
- MetaSVM -1.03
- CADD 9.20
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in allele C3F)
- UniProt: Uncertain significance (in allele C3F)
- Most common in the 1KG:IBS population (allele frequency 0.28)
- Structural context available
- Cited in: Influence of donor C3 allotype on late renal-transplantation outcome. (PMID 16687714)
- Cited in: Complement C3 variant and the risk of age-related macular degeneration. (PMID 17634448)