E20G (p.Glu20Gly) variant of TREX1 (Three-prime repair exonuclease 1)
E20G (p.Glu20Gly) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- rs78300695
- gnomAD 3-48466711-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.90
- Population evidence available
- Structural context available
- Cited in: A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic… (PMID 26938784)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)