R9C (p.Arg9Cys) variant of DOCK8 (Q8NF50)
R9C (p.Arg9Cys) in DOCK8 (Q8NF50) is a missense 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.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- gnomAD 9-215001-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.97
- MetaLR 0.05
- MetaSVM -1.13
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available