R5H (p.Arg5His) variant of NOTCH2 (Q04721)
R5H (p.Arg5His) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- TOPMed rs1234964366
- gnomAD rs1234964366
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.25
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.07
- Population evidence available
- Structural context available