T114N (p.Thr114Asn) variant of C3 (Complement C3)
T114N (p.Thr114Asn) in C3 (Complement C3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T114N (p.Thr114Asn) variant details
- p.Thr114Asn
- 1000Genomes rs552130054
- ExAC rs552130054
- TOPMed rs552130054
- gnomAD rs552130054
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0356
- REVEL 0.01
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available