R56P (p.Arg56Pro) variant of NOTCH1 (P46531)
R56P (p.Arg56Pro) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R56P (p.Arg56Pro) variant details
- p.Arg56Pro
- TOPMed rs1286309175
- gnomAD rs1286309175
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 22.40
- PolyPhen-2 0.48
- SIFT 0.17
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available