C18R (p.Cys18Arg) variant of NOTCH2 (Q04721)
C18R (p.Cys18Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
C18R (p.Cys18Arg) variant details
- p.Cys18Arg
- gnomAD rs1553217919
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.19
- CADD 17.00
- PolyPhen-2 0.04
- SIFT 0.37
- Population evidence available
- Structural context available