I17V (p.Ile17Val) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
I17V (p.Ile17Val) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- gnomAD X-123885711-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.04
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available