R114L (p.Arg114Leu) variant of TREX1 (Three-prime repair exonuclease 1)
R114L (p.Arg114Leu) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aicardi-Goutieres syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
R114L (p.Arg114Leu) variant details
- p.Arg114Leu
- rs72556554
- ClinGen CA352617907
- ClinVar RCV003448553
- Likely pathogenic
- Aicardi-Goutieres syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Aicardi-Goutieres syndrome 1)
- EBI: Likely pathogenic (in AGS1 and SLE)
- UniProt: Likely pathogenic (in AGS1 and SLE)
- Population evidence available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)