A5V (p.Ala5Val) variant of TREX1 (Three-prime repair exonuclease 1)
A5V (p.Ala5Val) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 3-48466669-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 20.50
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available