N112T (p.Asn112Thr) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
N112T (p.Asn112Thr) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N112T (p.Asn112Thr) variant details
- p.Asn112Thr
- gnomAD X-123885997-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.32
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available