R9G (p.Arg9Gly) variant of DOCK8 (Q8NF50)
R9G (p.Arg9Gly) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 9-215001-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.90
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available