H40Q (p.His40Gln) variant of TREX1 (Three-prime repair exonuclease 1)
H40Q (p.His40Gln) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H40Q (p.His40Gln) variant details
- p.His40Gln
- gnomAD 3-48466775-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 28.70
- PolyPhen-2 0.93
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available