S70F (p.Ser70Phe) variant of C3 (Complement C3)
S70F (p.Ser70Phe) 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 0.32 / 1. The record also includes population frequency data and structural context.
S70F (p.Ser70Phe) variant details
- p.Ser70Phe
- rs753544234
- ExAC rs753544234
- gnomAD rs753544234
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.13
- MetaLR 0.18
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.73
- EVE 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available