C65G (p.Cys65Gly) variant of NOTCH3 (Q9UM47)
C65G (p.Cys65Gly) 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 0.94 / 1. The record also includes structural context.
C65G (p.Cys65Gly) variant details
- p.Cys65Gly
- rs1555730177
- ClinGen CA404483316
- ClinVar RCV000518666
- Ensembl rs1555730177
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.81
- MetaLR 1.00
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available