T89K (p.Thr89Lys) variant of C3 (Complement C3)
T89K (p.Thr89Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
T89K (p.Thr89Lys) variant details
- p.Thr89Lys
- ExAC rs770111904
- gnomAD rs770111904
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.17
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available