R39* (p.Arg39Ter) variant of DOCK8 (Q8NF50)
R39* (p.Arg39Ter) in DOCK8 (Q8NF50) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. 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.
R39* (p.Arg39Ter) variant details
- p.Arg39Ter
- rs1262383526
- NCI-TCGA Cosmic COSV6663
- TOPMed rs1262383526
- gnomAD rs1262383526
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 43.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available