P59S (p.Pro59Ser) variant of TREX1 (Three-prime repair exonuclease 1)
P59S (p.Pro59Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- TOPMed rs1200269206
- gnomAD rs1200269206
- Uncertain significance
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 2.83
- PolyPhen-2 0.01
- SIFT 0.76
- ClinVar: Uncertain significance (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available