G34S (p.Gly34Ser) variant of NOTCH1 (P46531)
G34S (p.Gly34Ser) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- gnomAD rs1402866125
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 27.30
- PolyPhen-2 0.86
- SIFT 0.05
- Population evidence available
- Structural context available