N107I (p.Asn107Ile) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
N107I (p.Asn107Ile) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N107I (p.Asn107Ile) variant details
- p.Asn107Ile
- Ensembl rs28382721
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.09
- CADD 17.50
- EBI: Variant of uncertain significance (in dbSNP:rs28382721)
- UniProt: Uncertain significance (in dbSNP:rs28382721)
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available