G2E (p.Gly2Glu) variant of C3 (Complement C3)
G2E (p.Gly2Glu) in C3 (Complement C3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- NCI-TCGA Cosmic COSV9983
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.31
- AlphaMissense 0.14
- MetaLR 0.36
- MetaSVM -0.72
- CADD 9.37
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available