P48P (p.Pro48Pro) variant of TREX1 (Three-prime repair exonuclease 1)
P48P (p.Pro48Pro) in TREX1 (Three-prime repair exonuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P48P (p.Pro48Pro) variant details
- p.Pro48Pro
- rs781060789
- gnomAD 3-48466799-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available