C67S (p.Cys67Ser) variant of NOTCH3 (Q9UM47)
C67S (p.Cys67Ser) 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 1.00 / 1. The record also includes structural context.
C67S (p.Cys67Ser) variant details
- p.Cys67Ser
- rs2145443955
- ClinGen CA404535232
- ClinVar RCV002475355
- Ensembl rs2145443955
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available