P89S (p.Pro89Ser) variant of C5 (Complement C5)
P89S (p.Pro89Ser) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P89S (p.Pro89Ser) variant details
- p.Pro89Ser
- ExAC rs769302771
- gnomAD rs769302771
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.95
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available