S124G (p.Ser124Gly) variant of C3 (Complement C3)
S124G (p.Ser124Gly) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S124G (p.Ser124Gly) variant details
- p.Ser124Gly
- TOPMed rs1047554865
- gnomAD rs1047554865
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available