E175G (p.Glu175Gly) variant of C5 (Complement C5)
E175G (p.Glu175Gly) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E175G (p.Glu175Gly) variant details
- p.Glu175Gly
- ExAC rs748212552
- gnomAD rs748212552
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.36
- MetaLR 0.40
- MetaSVM -0.31
- CADD 28.20
- PolyPhen-2 0.47
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available