G6C (p.Gly6Cys) variant of C3 (Complement C3)
G6C (p.Gly6Cys) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- ExAC rs749647041
- TOPMed rs749647041
- gnomAD rs749647041
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available