C68Y (p.Cys68Tyr) variant of NOTCH1 (P46531)
C68Y (p.Cys68Tyr) in NOTCH1 (P46531) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
C68Y (p.Cys68Tyr) variant details
- p.Cys68Tyr
- NCI-TCGA Cosmic COSV5304
- NCI-TCGA Cosmic COSV9948
- Ensembl rs2133379652
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available