L44L (p.Leu44Leu) variant of TREX1 (Three-prime repair exonuclease 1)
L44L (p.Leu44Leu) in TREX1 (Three-prime repair exonuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L44L (p.Leu44Leu) variant details
- p.Leu44Leu
- rs2107255846
- gnomAD 3-48466787-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 11.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available