F50S (p.Phe50Ser) variant of C5 (Complement C5)
F50S (p.Phe50Ser) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F50S (p.Phe50Ser) variant details
- p.Phe50Ser
- rs2047627038
- ClinGen CA374732639
- ClinVar RCV002746554
- TOPMed rs2047627038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.38
- MetaLR 0.19
- MetaSVM -0.75
- CADD 28.10
- PolyPhen-2 0.94
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available