C68F (p.Cys68Phe) variant of NOTCH1 (P46531)
C68F (p.Cys68Phe) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C68F (p.Cys68Phe) variant details
- p.Cys68Phe
- Ensembl rs2133379652
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available