V53L (p.Val53Leu) variant of NOTCH1 (P46531)
V53L (p.Val53Leu) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- ExAC rs757497167
- TOPMed rs757497167
- gnomAD rs757497167
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available