F28Y (p.Phe28Tyr) variant of DOCK8 (Q8NF50)
F28Y (p.Phe28Tyr) in DOCK8 (Q8NF50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F28Y (p.Phe28Tyr) variant details
- p.Phe28Tyr
- gnomAD 9-271654-GTT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available