T56A (p.Thr56Ala) variant of C3 (Complement C3)
T56A (p.Thr56Ala) 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 0.36 / 1. The record also includes structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- rs2145438127
- ClinGen CA403646128
- ClinVar RCV001966831
- Ensembl rs2145438127
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.52
- EVE 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available