S25F (p.Ser25Phe) variant of NOTCH1 (P46531)
S25F (p.Ser25Phe) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S25F (p.Ser25Phe) variant details
- p.Ser25Phe
- TOPMed rs1843774930
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.33
- Population evidence available
- Structural context available