P7S (p.Pro7Ser) variant of TREX1 (Three-prime repair exonuclease 1)
P7S (p.Pro7Ser) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs766068553
- ClinGen CA352616858
- ClinVar RCV002252648
- ExAC rs766068553
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 3.22
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available