D78Y (p.Asp78Tyr) variant of TYK2 (P29597)
D78Y (p.Asp78Tyr) 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 0.28 / 1. The record also includes structural context.
D78Y (p.Asp78Tyr) variant details
- p.Asp78Tyr
- rs778171865
- ClinGen CA404020360
- ClinVar RCV001210453
- ExAC rs778171865
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.13
- MetaLR 0.09
- MetaSVM -1.04
- PolyPhen-2 0.36
- SIFT 0.40
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available