R54C (p.Arg54Cys) variant of NOTCH3 (Q9UM47)
R54C (p.Arg54Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cerebral arteriopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs1555730189
- ClinGen CA404483379
- ClinVar RCV000516423
- ClinVar RCV001253276
- Pathogenic/Likely pathogenic
- Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cerebral arteriopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.80
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Lateral meningocele syndrome; Myofibromatosis, infantile, 2; Cer)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. (PMID 11102981)
- Cited in: CADASIL. (PMID 20301673)