R54L (p.Arg54Leu) variant of NOTCH3 (Q9UM47)
R54L (p.Arg54Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CADASIL1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- ExAC rs754104109
- TOPMed rs754104109
- gnomAD rs754104109
- Uncertain significance
- in CADASIL1
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.51
- CADD 23.60
- PolyPhen-2 0.56
- SIFT 0.18
- EBI: Variant of uncertain significance (in CADASIL1)
- UniProt: Uncertain significance (in CADASIL1)
- Population evidence available
- Structural context available