P47A (p.Pro47Ala) variant of TREX1 (Three-prime repair exonuclease 1)
P47A (p.Pro47Ala) 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 0.06 / 1. The record also includes population frequency data and structural context.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- ExAC rs751831423
- gnomAD rs751831423
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0614
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available