T48A (p.Thr48Ala) variant of NOTCH2 (Q04721)
T48A (p.Thr48Ala) in NOTCH2 (Q04721) is a missense change. The record also includes structural context.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- gnomAD rs1553210706
- Missense
- Structural context available