R9H (p.Arg9His) variant of DOCK8 (Q8NF50)
R9H (p.Arg9His) 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.
R9H (p.Arg9His) variant details
- p.Arg9His
- gnomAD 9-215002-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- MetaLR 0.03
- MetaSVM -1.04
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.29
- Population evidence available
- Structural context available
- Literature evidence available