C10Y (p.Cys10Tyr) variant of NOTCH1 (P46531)
C10Y (p.Cys10Tyr) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- rs1843806739
- ClinGen CA375579858
- ClinVar RCV001757150
- TOPMed rs1843806739
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 22.20
- PolyPhen-2 0.36
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available