G2R (p.Gly2Arg) variant of C3 (Complement C3)
G2R (p.Gly2Arg) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- ExAC rs778996328
- gnomAD rs778996328
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.31
- CADD 19.30
- PolyPhen-2 0.27
- SIFT 0.05
- Most common in the South Asian population (allele frequency 6.1e-05)
- Structural context available