S46R (p.Ser46Arg) variant of TREX1 (Three-prime repair exonuclease 1)
S46R (p.Ser46Arg) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- rs2107255865
- ClinGen CA2499216809
- ClinVar RCV001730099
- ClinVar RCV002286847
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)