G73D (p.Gly73Asp) variant of NOTCH3 (Q9UM47)
G73D (p.Gly73Asp) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
G73D (p.Gly73Asp) variant details
- p.Gly73Asp
- Ensembl rs2145443837
- Uncertain significance
- Missense
- MetaLR 0.97
- MetaSVM 1.11
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available