G54C (p.Gly54Cys) variant of NOTCH1 (P46531)
G54C (p.Gly54Cys) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- TOPMed rs1843418768
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available