T130I (p.Thr130Ile) variant of C5 (Complement C5)
T130I (p.Thr130Ile) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T130I (p.Thr130Ile) variant details
- p.Thr130Ile
- ExAC rs769250287
- gnomAD rs769250287
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.84
- MetaLR 0.76
- MetaSVM 0.72
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available