S40N (p.Ser40Asn) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
S40N (p.Ser40Asn) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S40N (p.Ser40Asn) variant details
- p.Ser40Asn
- gnomAD X-123885781-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.29
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available