S27F (p.Ser27Phe) variant of C3 (Complement C3)
S27F (p.Ser27Phe) in C3 (Complement C3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs1306521442
- NCI-TCGA Cosmic COSV5557
- TOPMed rs1306521442
- gnomAD rs1306521442
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.19
- AlphaMissense 0.49
- MetaLR 0.46
- MetaSVM 0.03
- CADD 26.20
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available