C2024Y (p.Cys2024Tyr) variant of DOCK8 (Q8NF50)
C2024Y (p.Cys2024Tyr) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inherited Immunodeficiency Diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
C2024Y (p.Cys2024Tyr) variant details
- p.Cys2024Tyr
- rs1587143342
- ClinGen CA372751533
- ClinVar RCV001027570
- Ensembl rs1587143342
- Likely pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.98
- MetaLR 0.55
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available