I15V (p.Ile15Val) variant of TREX1 (Three-prime repair exonuclease 1)
I15V (p.Ile15Val) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- gnomAD rs1449985027
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available