Q51G (p.Gln51Gly) variant of TREX1 (Three-prime repair exonuclease 1)
Q51G (p.Gln51Gly) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
Q51G (p.Gln51Gly) variant details
- p.Gln51Gly
- rs770607110
- gnomAD 3-48466801-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 17.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Literature evidence available