G5E (p.Gly5Glu) variant of C5 (Complement C5)
G5E (p.Gly5Glu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- ExAC rs750156638
- TOPMed rs750156638
- gnomAD rs750156638
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.01
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available