Q51* (p.Gln51Ter) variant of DOCK8 (Q8NF50)
Q51* (p.Gln51Ter) in DOCK8 (Q8NF50) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- TOPMed rs1420962244
- gnomAD rs1420962244
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 43.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available