D18N (p.Asp18Asn) variant of CASP8 (Caspase-8)
D18N (p.Asp18Asn) in CASP8 (Caspase-8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autoimmune lymphoproliferative syndrome type 2B. The record also includes structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- NCI-TCGA Cosmic COSV5184
- NCI-TCGA Cosmic COSV5185
- Uncertain significance
- Inborn genetic diseases; Autoimmune lymphoproliferative syndrome type 2B
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Autoimmune lymphoproliferative syndrome)
- UniProt: Uncertain significance
- Structural context available