P54L (p.Pro54Leu) variant of TREX1 (Three-prime repair exonuclease 1)
P54L (p.Pro54Leu) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- gnomAD 3-48466816-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 7.44
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available