D96Y (p.Asp96Tyr) variant of TYK2 (P29597)
D96Y (p.Asp96Tyr) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
D96Y (p.Asp96Tyr) variant details
- p.Asp96Tyr
- rs2145275479
- ClinGen CA404020013
- ClinVar RCV001977894
- Ensembl rs2145275479
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.13
- MetaLR 0.44
- MetaSVM -0.49
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.39
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available