C82F (p.Cys82Phe) variant of NOTCH3 (Q9UM47)
C82F (p.Cys82Phe) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.92 / 1. The record also includes population frequency data and structural context.
C82F (p.Cys82Phe) variant details
- p.Cys82Phe
- rs1023306013
- ClinGen CA305778444
- ClinVar RCV000516733
- ClinVar RCV004737588
- Pathogenic/Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.11
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available