G168E (p.Gly168Glu) variant of C5 (Complement C5)
G168E (p.Gly168Glu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G168E (p.Gly168Glu) variant details
- p.Gly168Glu
- ExAC rs771692221
- TOPMed rs771692221
- gnomAD rs771692221
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.61
- MetaLR 0.58
- MetaSVM 0.14
- CADD 23.40
- PolyPhen-2 0.85
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 9.1e-05)
- Structural context available