T46A (p.Thr46Ala) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
T46A (p.Thr46Ala) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- ExAC rs773990585
- gnomAD rs773990585
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- CADD 14.60
- PolyPhen-2 0.08
- SIFT 0.75
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available