G2D (p.Gly2Asp) variant of TREX1 (Three-prime repair exonuclease 1)
G2D (p.Gly2Asp) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio. The record also includes population frequency data and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- 1000Genomes rs199519507
- ExAC rs199519507
- gnomAD rs199519507
- Uncertain significance
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- ClinVar: Uncertain significance (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available