G420C (p.Gly420Cys) variant of NOTCH3 (Q9UM47)
G420C (p.Gly420Cys) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G420C (p.Gly420Cys) variant details
- p.Gly420Cys
- rs1323608032
- ClinGen CA404528180
- ClinVar RCV000517350
- ClinVar RCV000761306
- Pathogenic/Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.65
- MetaLR 0.80
- MetaSVM 0.74
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Pathogenic/Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. (PMID 12146805)
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)