P8L (p.Pro8Leu) variant of TREX1 (Three-prime repair exonuclease 1)
P8L (p.Pro8Leu) 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; Retinal vasculopathy with cerebral leukoencephalop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs561454996
- ClinGen CA2376551
- ClinVar RCV001367616
- ClinVar RCV002547874
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalop
- Missense
- Variant Prioritization Score for Impact Estimate 0.0627
- CADD 0.28
- PolyPhen-2 0.42
- SIFT 0.26
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)