S20Y (p.Ser20Tyr) variant of DOCK8 (Q8NF50)
S20Y (p.Ser20Tyr) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S20Y (p.Ser20Tyr) variant details
- p.Ser20Tyr
- gnomAD 9-271632-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 0.50
- MetaLR 0.07
- MetaSVM -1.15
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available