S3* (p.Ser3Ter) variant of TREX1 (Three-prime repair exonuclease 1)
S3* (p.Ser3Ter) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- gnomAD 3-48466663-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available