R248W (p.Arg248Trp) variant of CASP8 (Caspase-8)
R248W (p.Arg248Trp) in CASP8 (Caspase-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autoimmune lymphoproliferative syndrome type 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
R248W (p.Arg248Trp) variant details
- p.Arg248Trp
- rs17860424
- ClinGen CA119046
- NCI-TCGA Cosmic COSV5185
- cosmic curated COSV51855
- Pathogenic/Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Autoimmune lymphoproliferative syndrome type 2B)
- EBI: Pathogenic (in CASP8D)
- UniProt: Pathogenic (in CASP8D)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Cited in: Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. (PMID 12353035)