G142D (p.Gly142Asp) variant of C3 (Complement C3)
G142D (p.Gly142Asp) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G142D (p.Gly142Asp) variant details
- p.Gly142Asp
- gnomAD rs1458388275
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.57
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available