A21D (p.Ala21Asp) variant of TREX1 (Three-prime repair exonuclease 1)
A21D (p.Ala21Asp) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- gnomAD 3-48466717-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available