T134A (p.Thr134Ala) variant of C3 (Complement C3)
T134A (p.Thr134Ala) in C3 (Complement C3) is a missense change. Clinical records from ClinVar 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 0.77 / 1. The record also includes population frequency data and structural context.
T134A (p.Thr134Ala) variant details
- p.Thr134Ala
- ExAC rs753920167
- TOPMed rs753920167
- gnomAD rs753920167
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.86
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available