R33S (p.Arg33Ser) variant of CASP8 (Caspase-8)
R33S (p.Arg33Ser) in CASP8 (Caspase-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome type 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- rs138862018
- ClinGen CA2053445
- ClinVar RCV002979704
- ESP rs138862018
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 20.90
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 2B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available