T49P (p.Thr49Pro) variant of TREX1 (Three-prime repair exonuclease 1)
T49P (p.Thr49Pro) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
T49P (p.Thr49Pro) variant details
- p.Thr49Pro
- rs748914604
- gnomAD 3-48466792-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 21.50
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Literature evidence available