R75Q (p.Arg75Gln) variant of NOTCH3 (Q9UM47)
R75Q (p.Arg75Gln) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- rs145069047
- ClinGen CA9263949
- ClinVar RCV000945357
- ClinVar RCV001374641
- Conflicting interpretations
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.42
- CADD 19.40
- PolyPhen-2 0.60
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: CADASIL. (PMID 20301673)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)