R65* (p.Arg65Ter) variant of NOTCH2 (Q04721)
R65* (p.Arg65Ter) in NOTCH2 (Q04721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R65* (p.Arg65Ter) variant details
- p.Arg65Ter
- cosmic curated COSV10584
- gnomAD rs1280158106
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available