R62L (p.Arg62Leu) variant of TREX1 (Three-prime repair exonuclease 1)
R62L (p.Arg62Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R62L (p.Arg62Leu) variant details
- p.Arg62Leu
- rs547752029
- ClinGen CA352617551
- ClinVar RCV002046314
- 1000Genomes rs547752029
- Uncertain significance
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)