P55S (p.Pro55Ser) variant of TREX1 (Three-prime repair exonuclease 1)
P55S (p.Pro55Ser) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- ESP rs148664129
- ExAC rs148664129
- gnomAD rs148664129
- Uncertain significance
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- ClinVar: Uncertain significance (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- UniProt: Uncertain significance