C24Y (p.Cys24Tyr) variant of NOTCH1 (P46531)
C24Y (p.Cys24Tyr) 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.
C24Y (p.Cys24Tyr) variant details
- p.Cys24Tyr
- Ensembl rs2133406274
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 26.40
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available