P55L (p.Pro55Leu) variant of TREX1 (Three-prime repair exonuclease 1)
P55L (p.Pro55Leu) 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 Inborn genetic diseases; Chilblain lupus 1; Aicardi-Goutieres syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- rs2530035319
- ClinGen CA352617469
- ClinVar RCV004473548
- ClinVar RCV005220900
- Uncertain significance
- Inborn genetic diseases; Chilblain lupus 1; Aicardi-Goutieres syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 9.49
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Chilblain lupus 1; Aicardi-Goutieres sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)