p.Ile15dup variant of TREX1 (Three-prime repair exonuclease 1)
p.Ile15dup in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ile15dup variant details
- rs2040322179
- gnomAD 3-48466695-C-CTCA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 20.90
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available