D9N (p.Asp9Asn) variant of CASP8 (Caspase-8)
D9N (p.Asp9Asn) 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 0.08 / 1. The record also includes population frequency data and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- rs747412250
- ClinGen CA2053437
- cosmic curated COSV99964
- ClinVar RCV002604543
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.0775
- CADD 0.27
- PolyPhen-2 0.01
- SIFT 0.90
- 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 8.8e-05)
- Structural context available