G22W (p.Gly22Trp) variant of C3 (Complement C3)
G22W (p.Gly22Trp) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G22W (p.Gly22Trp) variant details
- p.Gly22Trp
- ExAC rs765928197
- gnomAD rs765928197
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.54
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available