Q32E (p.Gln32Glu) variant of CASP8 (Caspase-8)
Q32E (p.Gln32Glu) 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 0.34 / 1. The record also includes population frequency data and structural context.
Q32E (p.Gln32Glu) variant details
- p.Gln32Glu
- rs999368756
- ClinGen CA63878565
- ClinVar RCV001248049
- TOPMed rs999368756
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 6.57
- PolyPhen-2 0.22
- SIFT 0.28
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 2B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available