P48L (p.Pro48Leu) variant of TREX1 (Three-prime repair exonuclease 1)
P48L (p.Pro48Leu) 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 Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cereb. The record also includes published literature and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs2040328677
- ClinGen CA352617379
- ClinVar RCV001309567
- Ensembl rs2040328677
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cereb
- Missense
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculo)
- 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)