D131E (p.Asp131Glu) variant of C5 (Complement C5)
D131E (p.Asp131Glu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D131E (p.Asp131Glu) variant details
- p.Asp131Glu
- TOPMed rs912694903
- gnomAD rs912694903
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.71
- MetaLR 0.77
- MetaSVM 0.48
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available