R161W (p.Arg161Trp) variant of C3 (Complement C3)
R161W (p.Arg161Trp) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Atypical hemolytic-uremic syndrome with C3 anomaly; C3 glomerulone. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R161W (p.Arg161Trp) variant details
- p.Arg161Trp
- rs776423109
- ClinGen CA403644909
- ClinVar RCV001507921
- ClinVar RCV002466678
- Pathogenic/Likely pathogenic
- not provided; Atypical hemolytic-uremic syndrome with C3 anomaly; C3 glomerulone
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.53
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Atypical hemolytic-uremic syndrome with C3 anomaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)