P47T (p.Pro47Thr) variant of TREX1 (Three-prime repair exonuclease 1)
P47T (p.Pro47Thr) 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 published literature and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- rs751831423
- ClinGen CA352617362
- cosmic curated COSV10517
- ClinVar RCV001956710
- 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
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)