G2R (p.Gly2Arg) variant of TREX1 (Three-prime repair exonuclease 1)
G2R (p.Gly2Arg) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- gnomAD 3-48466659-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 23.20
- PolyPhen-2 0.86
- SIFT 0.08
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available