G23C (p.Gly23Cys) variant of TREX1 (Three-prime repair exonuclease 1)
G23C (p.Gly23Cys) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G23C (p.Gly23Cys) variant details
- p.Gly23Cys
- gnomAD 3-48466722-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available