T49H (p.Thr49His) variant of TREX1 (Three-prime repair exonuclease 1)
T49H (p.Thr49His) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
T49H (p.Thr49His) variant details
- p.Thr49His
- rs748914604
- gnomAD 3-48466792-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 23.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Literature evidence available