C212R (p.Cys212Arg) variant of NOTCH3 (Q9UM47)
C212R (p.Cys212Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Migraine; Cognitive impairment; Atypical behavior. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C212R (p.Cys212Arg) variant details
- p.Cys212Arg
- rs1555729455
- ClinGen CA404533223
- ClinVar RCV001003547
- Ensembl rs1555729455
- Pathogenic
- Migraine; Cognitive impairment; Atypical behavior
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Migraine; Cognitive impairment; Atypical behavior)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart… (PMID 25355838)