C76Y (p.Cys76Tyr) variant of NOTCH3 (Q9UM47)
C76Y (p.Cys76Tyr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
C76Y (p.Cys76Tyr) variant details
- p.Cys76Tyr
- rs1568362252
- ClinGen CA404535141
- ClinVar RCV000710997
- ClinVar RCV001003549
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available