K19R (p.Lys19Arg) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
K19R (p.Lys19Arg) in XIAP (E3 ubiquitin-protein ligase XIAP) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- gnomAD X-123885716-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available