S40I (p.Ser40Ile) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
S40I (p.Ser40Ile) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S40I (p.Ser40Ile) variant details
- p.Ser40Ile
- gnomAD rs1395494691
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.32
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available