S147P (p.Ser147Pro) variant of C5 (Complement C5)
S147P (p.Ser147Pro) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S147P (p.Ser147Pro) variant details
- p.Ser147Pro
- TOPMed rs1654274677
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.68
- MetaLR 0.55
- MetaSVM 0.15
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available