G56A (p.Gly56Ala) variant of NOTCH2 (Q04721)
G56A (p.Gly56Ala) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G56A (p.Gly56Ala) variant details
- p.Gly56Ala
- ExAC rs782568319
- TOPMed rs782568319
- gnomAD rs782568319
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.60
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.66
- Most common in the REMAINING population (allele frequency 5.1e-05)
- Structural context available