S47G (p.Ser47Gly) variant of NOTCH3 (Q9UM47)
S47G (p.Ser47Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- rs775259883
- ClinGen CA9263989
- ClinVar RCV001128002
- ClinVar RCV002473202
- Uncertain significance
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.34
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)