C10R (p.Cys10Arg) variant of NOTCH1 (P46531)
C10R (p.Cys10Arg) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- Ensembl rs2133408626
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 22.60
- PolyPhen-2 0.15
- SIFT 0.21
- Population evidence available
- Structural context available