C155G (p.Cys155Gly) variant of NOTCH3 (Q9UM47)
C155G (p.Cys155Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C155G (p.Cys155Gly) variant details
- p.Cys155Gly
- rs2046933681
- ClinGen CA404533941
- ClinVar RCV001175251
- Ensembl rs2046933681
- Likely pathogenic
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.92
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Cerebral arteriopathy with subcortical infarcts and leukoencepha)
- EBI: Likely pathogenic (in CADASIL1)
- UniProt: Likely pathogenic (in CADASIL1)
- Structural context available
- Cited in: CADASIL. (PMID 20301673)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)