R18W (p.Arg18Trp) variant of DOCK8 (Q8NF50)
R18W (p.Arg18Trp) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- gnomAD 9-215028-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.96
- MetaLR 0.05
- MetaSVM -1.14
- CADD 33.00
- PolyPhen-2 0.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available