T46S (p.Thr46Ser) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
T46S (p.Thr46Ser) in XIAP (E3 ubiquitin-protein ligase XIAP) 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 structural context.
T46S (p.Thr46Ser) variant details
- p.Thr46Ser
- ExAC rs773990585
- gnomAD rs773990585
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.21
- CADD 19.40
- PolyPhen-2 0.72
- SIFT 0.47
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available