G53D (p.Gly53Asp) variant of NOTCH3 (Q9UM47)
G53D (p.Gly53Asp) in NOTCH3 (Q9UM47) is a missense change. The record also includes variant effect predictions and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- TOPMed rs2046978438
- Missense
- MetaLR 0.95
- MetaSVM 1.08
- SIFT 0.00
- Structural context available