V39L (p.Val39Leu) variant of TREX1 (Three-prime repair exonuclease 1)
V39L (p.Val39Leu) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- ESP rs145434330
- ExAC rs145434330
- TOPMed rs145434330
- gnomAD rs145434330
- Uncertain significance
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 15.80
- PolyPhen-2 0.11
- SIFT 0.04
- ClinVar: Uncertain significance (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available