Y710C (p.Tyr710Cys) variant of NOTCH3 (Q9UM47)
Y710C (p.Tyr710Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y710C (p.Tyr710Cys) variant details
- p.Tyr710Cys
- rs1328784046
- ClinGen CA404522215
- ClinVar RCV003484418
- ClinVar RCV004536709
- Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.66
- CADD 23.40
- PolyPhen-2 0.48
- SIFT 0.17
- ClinVar: Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. (PMID 24000151)
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)