A13T (p.Ala13Thr) variant of DOCK8 (Q8NF50)
A13T (p.Ala13Thr) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- NCI-TCGA Cosmic COSV6668
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available