T49A (p.Thr49Ala) variant of TREX1 (Three-prime repair exonuclease 1)
T49A (p.Thr49Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- rs1427260162
- ClinGen CA352617387
- ClinVar RCV001722444
- gnomAD rs1427260162
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- CADD 2.23
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)