D45Y (p.Asp45Tyr) variant of ITPR2 (Q14571)
D45Y (p.Asp45Tyr) in ITPR2 (Q14571) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- TOPMed rs1164263542
- gnomAD rs1164263542
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available