D178E (p.Asp178Glu) variant of C5 (Complement C5)
D178E (p.Asp178Glu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D178E (p.Asp178Glu) variant details
- p.Asp178Glu
- gnomAD rs1484500010
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- MetaLR 0.37
- MetaSVM -0.31
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available