E37G (p.Glu37Gly) variant of C3 (Complement C3)
E37G (p.Glu37Gly) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- ExAC rs760705687
- gnomAD rs760705687
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.29
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.64
- CADD 22.40
- PolyPhen-2 0.77
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available