C42Y (p.Cys42Tyr) variant of TREX1 (Three-prime repair exonuclease 1)
C42Y (p.Cys42Tyr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
C42Y (p.Cys42Tyr) variant details
- p.Cys42Tyr
- rs2107255814
- ClinGen CA352617304
- ClinVar RCV002248271
- Ensembl rs2107255814
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available