E20P (p.Glu20Pro) variant of TREX1 (Three-prime repair exonuclease 1)
E20P (p.Glu20Pro) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E20P (p.Glu20Pro) variant details
- p.Glu20Pro
- rs770193197
- gnomAD 3-48466711-TGGAG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available