P53S (p.Pro53Ser) variant of TREX1 (Three-prime repair exonuclease 1)
P53S (p.Pro53Ser) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- gnomAD 3-48466812-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 6.59
- PolyPhen-2 0.06
- SIFT 0.76
- Most common in the REMAINING population (allele frequency 0.00048)
- Literature evidence available