T56I (p.Thr56Ile) variant of C3 (Complement C3)
T56I (p.Thr56Ile) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- gnomAD rs1420958063
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.08
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.89
- CADD 6.54
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available