G160S (p.Gly160Ser) variant of C3 (Complement C3)
G160S (p.Gly160Ser) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atypical hemolytic-uremic syndrome with C3 anomaly; Age related macular degenera. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G160S (p.Gly160Ser) variant details
- p.Gly160Ser
- TOPMed rs1486448244
- gnomAD rs1486448244
- Uncertain significance
- Atypical hemolytic-uremic syndrome with C3 anomaly; Age related macular degenera
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.06
- CADD 13.80
- PolyPhen-2 0.03
- SIFT 0.85
- ClinVar: Uncertain significance (Atypical hemolytic-uremic syndrome with C3 anomaly; Age related)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available