R56L (p.Arg56Leu) variant of NOTCH1 (P46531)
R56L (p.Arg56Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- TOPMed rs1286309175
- gnomAD rs1286309175
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available