C63F (p.Cys63Phe) variant of NOTCH1 (P46531)
C63F (p.Cys63Phe) 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.
C63F (p.Cys63Phe) variant details
- p.Cys63Phe
- Ensembl rs2133379703
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available