D80G (p.Asp80Gly) variant of NOTCH3 (Q9UM47)
D80G (p.Asp80Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.85 / 1. The record also includes published literature and structural context.
D80G (p.Asp80Gly) variant details
- p.Asp80Gly
- rs1599395616
- ClinGen CA404535099
- ClinVar RCV001812344
- ClinVar RCV004796409
- Conflicting interpretations
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.76
- SIFT 0.01
- MutPred 0.42
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)