T32R (p.Thr32Arg) variant of TREX1 (Three-prime repair exonuclease 1)
T32R (p.Thr32Arg) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T32R (p.Thr32Arg) variant details
- p.Thr32Arg
- ExAC rs755138065
- TOPMed rs755138065
- gnomAD rs755138065
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available