D40E (p.Asp40Glu) variant of CASP8 (Caspase-8)
D40E (p.Asp40Glu) 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 0.18 / 1. The record also includes population frequency data and structural context.
D40E (p.Asp40Glu) variant details
- p.Asp40Glu
- rs759793127
- cosmic curated COSV99964
- ClinGen CA2053449
- ClinVar RCV001334877
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 13.30
- PolyPhen-2 0.60
- SIFT 0.49
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 2B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available