G2A (p.Gly2Ala) variant of TREX1 (Three-prime repair exonuclease 1)
G2A (p.Gly2Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs2107254550
- ClinGen CA2573137190
- ClinVar RCV001942306
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 17.70
- PolyPhen-2 0.06
- SIFT 0.12
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)