R9L (p.Arg9Leu) variant of DOCK8 (Q8NF50)
R9L (p.Arg9Leu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD 9-215002-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- MetaLR 0.03
- MetaSVM -1.00
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.28
- Population evidence available
- Structural context available
- Literature evidence available