S169P (p.Ser169Pro) variant of C5 (Complement C5)
S169P (p.Ser169Pro) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S169P (p.Ser169Pro) variant details
- p.Ser169Pro
- ExAC rs759291875
- gnomAD rs759291875
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.41
- MetaLR 0.36
- MetaSVM -0.62
- CADD 23.50
- PolyPhen-2 0.68
- SIFT 0.03
- Population evidence available
- Structural context available