T15I (p.Thr15Ile) variant of C3 (Complement C3)
T15I (p.Thr15Ile) 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 0.32 / 1. The record also includes population frequency data and structural context.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- TOPMed rs776845513
- gnomAD rs776845513
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.23
- CADD 4.40
- PolyPhen-2 0.00
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available