S55F (p.Ser55Phe) variant of C5 (Complement C5)
S55F (p.Ser55Phe) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S55F (p.Ser55Phe) variant details
- p.Ser55Phe
- gnomAD rs1423855081
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.24
- MetaLR 0.13
- MetaSVM -0.95
- CADD 22.90
- PolyPhen-2 0.51
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available