E60* (p.Glu60Ter) variant of NOTCH2 (Q04721)
E60* (p.Glu60Ter) 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.
E60* (p.Glu60Ter) variant details
- p.Glu60Ter
- cosmic curated COSV56694
- gnomAD rs1553206175
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.837
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available