S143A (p.Ser143Ala) variant of C3 (Complement C3)
S143A (p.Ser143Ala) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S143A (p.Ser143Ala) variant details
- p.Ser143Ala
- ExAC rs775719070
- gnomAD rs775719070
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.36
- CADD 20.50
- PolyPhen-2 0.44
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available