D15N (p.Asp15Asn) variant of CASP8 (Caspase-8)
D15N (p.Asp15Asn) 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 0.42 / 1. The record also includes population frequency data and structural context.
D15N (p.Asp15Asn) variant details
- p.Asp15Asn
- rs1947837560
- ClinGen CA350281315
- ClinVar RCV001230579
- NCI-TCGA TCGA novel
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 14.80
- PolyPhen-2 0.26
- SIFT 0.54
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 2B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available