Y147C (p.Tyr147Cys) variant of C3 (Complement C3)
Y147C (p.Tyr147Cys) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y147C (p.Tyr147Cys) variant details
- p.Tyr147Cys
- gnomAD rs1199768689
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.39
- AlphaMissense 0.12
- MetaLR 0.28
- MetaSVM -0.83
- CADD 16.30
- PolyPhen-2 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available