A21P (p.Ala21Pro) variant of TREX1 (Three-prime repair exonuclease 1)
A21P (p.Ala21Pro) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- TOPMed rs1356174769
- gnomAD rs1356174769
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available