G53R (p.Gly53Arg) variant of NOTCH3 (Q9UM47)
G53R (p.Gly53Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- ExAC rs778989879
- TOPMed rs778989879
- gnomAD rs778989879
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.87
- CADD 27.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available