Y19Y (p.Tyr19Tyr) variant of DOCK8 (Q8NF50)
Y19Y (p.Tyr19Tyr) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Y19Y (p.Tyr19Tyr) variant details
- p.Tyr19Tyr
- rs2048167841
- gnomAD 9-271630-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 6.74
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available