Q40* (p.Gln40Ter) variant of DOCK8 (Q8NF50)
Q40* (p.Gln40Ter) in DOCK8 (Q8NF50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- Ensembl rs2048169062
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available