N33Y (p.Asn33Tyr) variant of DOCK8 (Q8NF50)
N33Y (p.Asn33Tyr) 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.
N33Y (p.Asn33Tyr) variant details
- p.Asn33Tyr
- gnomAD 9-271670-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.12
- CADD 22.30
- PolyPhen-2 0.69
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available