P58A (p.Pro58Ala) variant of TREX1 (Three-prime repair exonuclease 1)
P58A (p.Pro58Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- gnomAD 3-48466827-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 21.00
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available