R18R (p.Arg18Arg) variant of DOCK8 (Q8NF50)
R18R (p.Arg18Arg) in DOCK8 (Q8NF50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R18R (p.Arg18Arg) variant details
- p.Arg18Arg
- rs2048167738
- gnomAD 9-271627-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 22.90
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available