C46Y (p.Cys46Tyr) variant of NOTCH1 (P46531)
C46Y (p.Cys46Tyr) 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 0.79 / 1. The record also includes population frequency data and structural context.
C46Y (p.Cys46Tyr) variant details
- p.Cys46Tyr
- rs2540492460
- ClinGen CA375578709
- ClinVar RCV003225302
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available