C68Y (p.Cys68Tyr) variant of NOTCH2 (Q04721)
C68Y (p.Cys68Tyr) in NOTCH2 (Q04721) 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 1.00 / 1. The record also includes population frequency data and structural context.
C68Y (p.Cys68Tyr) variant details
- p.Cys68Tyr
- rs782412559
- ClinGen CA1040908
- ClinVar RCV003406731
- ExAC rs782412559
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available