G84S (p.Gly84Ser) variant of C3 (Complement C3)
G84S (p.Gly84Ser) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G84S (p.Gly84Ser) variant details
- p.Gly84Ser
- rs1433338521
- ClinGen CA403645738
- ClinVar RCV003682235
- gnomAD rs1433338521
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.16
- CADD 0.40
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available