S3W (p.Ser3Trp) variant of TREX1 (Three-prime repair exonuclease 1)
S3W (p.Ser3Trp) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S3W (p.Ser3Trp) variant details
- p.Ser3Trp
- gnomAD 3-48466663-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available