R9S (p.Arg9Ser) variant of DOCK8 (Q8NF50)
R9S (p.Arg9Ser) 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.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 9-215001-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- AlphaMissense 0.98
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available