V123F (p.Val123Phe) variant of C3 (Complement C3)
V123F (p.Val123Phe) 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 0.30 / 1. The record also includes population frequency data and structural context.
V123F (p.Val123Phe) variant details
- p.Val123Phe
- TOPMed rs1265210034
- gnomAD rs1265210034
- Uncertain significance
- Atypical hemolytic-uremic syndrome with C3 anomaly; Age related macular degenera
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.28
- AlphaMissense 0.25
- MetaLR 0.06
- MetaSVM -1.03
- CADD 20.90
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Atypical hemolytic-uremic syndrome with C3 anomaly; Age related)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available