C35R (p.Cys35Arg) variant of NOTCH2 (Q04721)
C35R (p.Cys35Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C35R (p.Cys35Arg) variant details
- p.Cys35Arg
- ExAC rs781887969
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.90
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available