S5N (p.Ser5Asn) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
S5N (p.Ser5Asn) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- Ensembl rs2053344451
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.07
- CADD 16.30
- PolyPhen-2 0.23
- SIFT 0.22
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available