G101E (p.Gly101Glu) variant of C3 (Complement C3)
G101E (p.Gly101Glu) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of C3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G101E (p.Gly101Glu) variant details
- p.Gly101Glu
- rs373754302
- ClinGen CA9129849
- ClinVar RCV003402702
- ESP rs373754302
- Uncertain significance
- C3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.05
- CADD 6.98
- PolyPhen-2 0.06
- SIFT 0.42
- ClinVar: Uncertain significance (C3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available