C419G (p.Cys419Gly) variant of NOTCH3 (Q9UM47)
C419G (p.Cys419Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
C419G (p.Cys419Gly) variant details
- p.Cys419Gly
- rs1555729070
- ClinGen CA404528196
- ClinVar RCV000516593
- Ensembl rs1555729070
- Pathogenic/Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic/Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available