T56S (p.Thr56Ser) variant of TREX1 (Three-prime repair exonuclease 1)
T56S (p.Thr56Ser) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T56S (p.Thr56Ser) variant details
- p.Thr56Ser
- rs759104641
- gnomAD 3-48466819-CCA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 16.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available