C49R (p.Cys49Arg) variant of NOTCH3 (Q9UM47)
C49R (p.Cys49Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C49R (p.Cys49Arg) variant details
- p.Cys49Arg
- rs1555730197
- ClinGen CA404483412
- NCI-TCGA Cosmic COSV9965
- ClinVar RCV000518038
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: CADASIL. (PMID 20301673)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)