S45L (p.Ser45Leu) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
S45L (p.Ser45Leu) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of X-linked lymphoproliferative disease due to XIAP deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S45L (p.Ser45Leu) variant details
- p.Ser45Leu
- rs768460056
- ClinGen CA10507996
- ClinVar RCV003074535
- ExAC rs768460056
- Benign
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.16
- CADD 22.30
- PolyPhen-2 0.44
- SIFT 0.07
- ClinVar: Benign (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)