C35A (p.Cys35Ala) variant of TREX1 (Three-prime repair exonuclease 1)
C35A (p.Cys35Ala) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C35A (p.Cys35Ala) variant details
- p.Cys35Ala
- rs778172075
- gnomAD 3-48466757-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 30.00
- Population evidence available
- Structural context available
- Literature evidence available