P7A (p.Pro7Ala) variant of TREX1 (Three-prime repair exonuclease 1)
P7A (p.Pro7Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- rs2530033254
- ClinGen CA2580070045
- ClinVar RCV003055644
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)