P58L (p.Pro58Leu) variant of TREX1 (Three-prime repair exonuclease 1)
P58L (p.Pro58Leu) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- rs745552589
- ClinGen CA2376588
- ClinVar RCV003076316
- ExAC rs745552589
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cereb
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.02
- 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:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)