R61G (p.Arg61Gly) variant of NOTCH3 (Q9UM47)
R61G (p.Arg61Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.41 / 1. The record also includes population frequency data and structural context.
R61G (p.Arg61Gly) variant details
- p.Arg61Gly
- ESP rs200595885
- ExAC rs200595885
- TOPMed rs200595885
- gnomAD rs200595885
- Uncertain significance
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.25
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.1e-06)
- Structural context available