S3L (p.Ser3Leu) variant of TREX1 (Three-prime repair exonuclease 1)
S3L (p.Ser3Leu) 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 Inborn genetic diseases; Retinal vasculopathy with cerebral leukoencephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs140029866
- ClinGen CA2376543
- ClinVar RCV001893160
- ClinVar RCV004039177
- Uncertain significance
- Inborn genetic diseases; Retinal vasculopathy with cerebral leukoencephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Retinal vasculopathy with cerebral leuk)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)