R62H (p.Arg62His) variant of TREX1 (Three-prime repair exonuclease 1)
R62H (p.Arg62His) 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 not specified; Retinal vasculopathy with cerebral leukoencephalopathy and system. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs547752029
- ClinGen CA2376594
- ClinVar RCV001864038
- ClinVar RCV004690150
- Uncertain significance
- not specified; Retinal vasculopathy with cerebral leukoencephalopathy and system
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Retinal vasculopathy with cerebral leukoencephalo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)