S46S (p.Ser46Ser) variant of TREX1 (Three-prime repair exonuclease 1)
S46S (p.Ser46Ser) in TREX1 (Three-prime repair exonuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S46S (p.Ser46Ser) variant details
- p.Ser46Ser
- rs895463771
- gnomAD 3-48466793-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 8.74
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available