E60* (p.Glu60Ter) variant of DOCK8 (Q8NF50)
E60* (p.Glu60Ter) in DOCK8 (Q8NF50) is a protein-truncating change. 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.
E60* (p.Glu60Ter) variant details
- p.Glu60Ter
- 1000Genomes rs1472799765
- gnomAD rs1472799765
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 42.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available