F17S (p.Phe17Ser) variant of TREX1 (Three-prime repair exonuclease 1)
F17S (p.Phe17Ser) 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 Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cereb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F17S (p.Phe17Ser) variant details
- p.Phe17Ser
- rs531498263
- ClinGen CA2376556
- ClinVar RCV004531789
- ClinVar RCV004587584
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cereb
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 24.90
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)