R114H (p.Arg114His) variant of TREX1 (Three-prime repair exonuclease 1)
R114H (p.Arg114His) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fetal anomalies with a likely genetic cause; Retinal vasculopathy with cerebral. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
R114H (p.Arg114His) variant details
- p.Arg114His
- rs72556554
- ClinGen CA116673
- ClinVar RCV000004396
- ClinVar RCV000004397
- Pathogenic/Likely pathogenic
- Fetal anomalies with a likely genetic cause; Retinal vasculopathy with cerebral
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fetal anomalies with a likely genetic cause; Retinal vasculopath)
- EBI: Pathogenic (in AGS1 and SLE)
- UniProt: Pathogenic (in AGS1 and SLE)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. (PMID 16845398)
- Cited in: The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein… (PMID 17293595)