T114I (p.Thr114Ile) variant of C3 (Complement C3)
T114I (p.Thr114Ile) 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 0.04 / 1. The record also includes population frequency data and structural context.
T114I (p.Thr114Ile) variant details
- p.Thr114Ile
- rs552130054
- ClinGen CA9129842
- ClinVar RCV002614677
- 1000Genomes rs552130054
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0449
- REVEL 0.04
- CADD 0.09
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available