G56D (p.Gly56Asp) variant of NOTCH2 (Q04721)
G56D (p.Gly56Asp) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- ExAC rs782568319
- TOPMed rs782568319
- gnomAD rs782568319
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.72
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available