P14H (p.Pro14His) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
P14H (p.Pro14His) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- gnomAD X-123885703-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.06
- CADD 23.70
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available