R62C (p.Arg62Cys) variant of TREX1 (Three-prime repair exonuclease 1)
R62C (p.Arg62Cys) 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; Retinal vasculopathy with cerebral leukoencephalop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- rs532286717
- ClinGen CA2376592
- ClinVar RCV001069845
- ClinVar RCV002554590
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalop
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- 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)