S27F (p.Ser27Phe) variant of TREX1 (Three-prime repair exonuclease 1)
S27F (p.Ser27Phe) 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 TREX1-related disorder; Retinal vasculopathy with cerebral leukoencephalopathy a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs11548268
- ClinGen CA2376565
- ClinVar RCV001926564
- ClinVar RCV004529053
- Uncertain significance
- TREX1-related disorder; Retinal vasculopathy with cerebral leukoencephalopathy a
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.10
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (TREX1-related disorder; Retinal vasculopathy with cerebral leuko)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)