T89M (p.Thr89Met) variant of C3 (Complement C3)
T89M (p.Thr89Met) 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 0.29 / 1. The record also includes population frequency data and structural context.
T89M (p.Thr89Met) variant details
- p.Thr89Met
- rs770111904
- ClinGen CA403645641
- ClinVar RCV003549455
- ExAC rs770111904
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.18
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available