H40Y (p.His40Tyr) variant of TREX1 (Three-prime repair exonuclease 1)
H40Y (p.His40Tyr) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
H40Y (p.His40Tyr) variant details
- p.His40Tyr
- gnomAD 3-48466773-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available