P25S (p.Pro25Ser) variant of TREX1 (Three-prime repair exonuclease 1)
P25S (p.Pro25Ser) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- gnomAD 3-48466728-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available