A63T (p.Ala63Thr) variant of NOTCH3 (Q9UM47)
A63T (p.Ala63Thr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- rs864621964
- ClinGen CA340886
- ClinVar RCV000009802
- Ensembl rs864621964
- Pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.25
- CADD 21.60
- PolyPhen-2 0.84
- SIFT 0.42
- ClinVar: Pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. (PMID 8878478)
- Cited in: Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. (PMID 9388399)