D18A (p.Asp18Ala) variant of TREX1 (Three-prime repair exonuclease 1)
D18A (p.Asp18Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D18A (p.Asp18Ala) variant details
- p.Asp18Ala
- gnomAD 3-48466708-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available