Y50H (p.Tyr50His) variant of NOTCH2 (Q04721)
Y50H (p.Tyr50His) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y50H (p.Tyr50His) variant details
- p.Tyr50His
- TOPMed rs1654025449
- gnomAD rs1654025449
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.13
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.48
- Most common in the Latino/Admixed American population (allele frequency 7.3e-05)
- Structural context available