G54D (p.Gly54Asp) variant of NOTCH1 (P46531)
G54D (p.Gly54Asp) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- Ensembl rs2133379818
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available