R10R (p.Arg10Arg) variant of DOCK8 (Q8NF50)
R10R (p.Arg10Arg) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- gnomAD 9-215006-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.517
- MetaLR 0.04
- MetaSVM -1.08
- CADD 25.20
- PolyPhen-2 0.86
- MutPred 0.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available