G50E (p.Gly50Glu) variant of NOTCH1 (P46531)
G50E (p.Gly50Glu) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G50E (p.Gly50Glu) variant details
- p.Gly50Glu
- Ensembl rs2133379870
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 10.20
- PolyPhen-2 0.08
- SIFT 1.00
- Population evidence available
- Structural context available