F33S (p.Phe33Ser) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
F33S (p.Phe33Ser) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F33S (p.Phe33Ser) variant details
- p.Phe33Ser
- gnomAD X-123885760-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.94
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available