P48H (p.Pro48His) variant of TREX1 (Three-prime repair exonuclease 1)
P48H (p.Pro48His) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P48H (p.Pro48His) variant details
- p.Pro48His
- gnomAD 3-48466798-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 20.40
- PolyPhen-2 0.80
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available