R102H (p.Arg102His) variant of C3 (Complement C3)
R102H (p.Arg102His) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R102H (p.Arg102His) variant details
- p.Arg102His
- rs554587967
- ClinGen CA9129848
- ClinVar RCV001351670
- ClinVar RCV002504563
- Uncertain significance
- Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 a
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- AlphaMissense 0.69
- MetaLR 0.37
- MetaSVM -0.84
- CADD 6.15
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Age related macular degeneration 9; Atypical hemolytic-uremic sy)
- EBI: Variant of uncertain significance (in allele C3F)
- UniProt: Uncertain significance (in allele C3F)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. (PMID 19821824)
- Cited in: Atypical hemolytic-uremic syndrome. (PMID 19846853)