P8R (p.Pro8Arg) variant of TREX1 (Three-prime repair exonuclease 1)
P8R (p.Pro8Arg) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- rs781731683
- gnomAD 3-48466673-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available