H67R (p.His67Arg) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
H67R (p.His67Arg) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H67R (p.His67Arg) variant details
- p.His67Arg
- gnomAD rs1259044216
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.33
- CADD 13.90
- PolyPhen-2 0.06
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available