T22A (p.Thr22Ala) variant of TREX1 (Three-prime repair exonuclease 1)
T22A (p.Thr22Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- gnomAD rs1472348056
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available