Y8C (p.Tyr8Cys) variant of CASP8 (Caspase-8)
Y8C (p.Tyr8Cys) 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 0.35 / 1. The record also includes population frequency data and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- rs895052255
- ClinGen CA63878502
- ClinVar RCV001997201
- TOPMed rs895052255
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 17.90
- PolyPhen-2 0.84
- SIFT 0.00
- 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 1.8e-06)
- Structural context available