G51E (p.Gly51Glu) variant of C3 (Complement C3)
G51E (p.Gly51Glu) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- Ensembl rs866471464
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.04
- AlphaMissense 0.18
- MetaLR 0.22
- MetaSVM -0.63
- CADD 1.44
- PolyPhen-2 0.91
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available