Y32C (p.Tyr32Cys) variant of NOTCH2 (Q04721)
Y32C (p.Tyr32Cys) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y32C (p.Tyr32Cys) variant details
- p.Tyr32Cys
- ExAC rs782447884
- TOPMed rs782447884
- gnomAD rs782447884
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.16
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available