R544C (p.Arg544Cys) variant of NOTCH3 (Q9UM47)
R544C (p.Arg544Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myofibromatosis, infantile, 2; Cerebral arteriopathy, autosomal dominant, with s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R544C (p.Arg544Cys) variant details
- p.Arg544Cys
- rs201118034
- ClinGen CA9263595
- ClinVar RCV000657880
- ClinVar RCV000763038
- Pathogenic/Likely pathogenic
- Myofibromatosis, infantile, 2; Cerebral arteriopathy, autosomal dominant, with s
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.57
- CADD 23.10
- PolyPhen-2 0.46
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Myofibromatosis, infantile, 2; Cerebral arteriopathy, autosomal)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. (PMID 10371548)
- Cited in: A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small… (PMID 23602593)