C484G (p.Cys484Gly) variant of NOTCH3 (Q9UM47)
C484G (p.Cys484Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Transient ischemic attack; Abnormal brain morphology; Migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
C484G (p.Cys484Gly) variant details
- p.Cys484Gly
- rs1555728965
- ClinGen CA404526893
- ClinVar RCV000626689
- Ensembl rs1555728965
- Likely pathogenic
- Transient ischemic attack; Abnormal brain morphology; Migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (Transient ischemic attack; Abnormal brain morphology; Migraine)
- EBI: Likely pathogenic (in CADASIL1)
- UniProt: Likely pathogenic (in CADASIL1)
- Structural context available