C12S (p.Cys12Ser) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
C12S (p.Cys12Ser) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
C12S (p.Cys12Ser) variant details
- p.Cys12Ser
- gnomAD X-123885697-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available