P133S (p.Pro133Ser) variant of C5 (Complement C5)
P133S (p.Pro133Ser) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P133S (p.Pro133Ser) variant details
- p.Pro133Ser
- gnomAD rs1249729447
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- MetaLR 0.47
- MetaSVM -0.25
- CADD 25.40
- PolyPhen-2 0.93
- SIFT 0.14
- Population evidence available
- Structural context available