K30* (p.Lys30Ter) variant of TREX1 (Three-prime repair exonuclease 1)
K30* (p.Lys30Ter) 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.
K30* (p.Lys30Ter) variant details
- p.Lys30Ter
- gnomAD 3-48466743-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 37.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available