R18M (p.Arg18Met) variant of DOCK8 (Q8NF50)
R18M (p.Arg18Met) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R18M (p.Arg18Met) variant details
- p.Arg18Met
- gnomAD 9-215029-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- MetaLR 0.02
- MetaSVM -1.05
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.34
- Population evidence available
- Structural context available
- Literature evidence available