G52W (p.Gly52Trp) variant of TREX1 (Three-prime repair exonuclease 1)
G52W (p.Gly52Trp) 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 and structural context.
G52W (p.Gly52Trp) variant details
- p.Gly52Trp
- gnomAD rs1328154001
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available