F52L (p.Phe52Leu) variant of NOTCH1 (P46531)
F52L (p.Phe52Leu) 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 0.12 / 1. The record also includes population frequency data and structural context.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- Ensembl rs2133379846
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 8.92
- PolyPhen-2 0.05
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available