I42M (p.Ile42Met) variant of DOCK8 (Q8NF50)
I42M (p.Ile42Met) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to DOCK8 deficiency. The record also includes structural context.
I42M (p.Ile42Met) variant details
- p.Ile42Met
- rs962341270
- ClinGen CA372752400
- ClinVar RCV006559670
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available