R91* (p.Arg91Ter) variant of NOTCH2 (Q04721)
R91* (p.Arg91Ter) in NOTCH2 (Q04721) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R91* (p.Arg91Ter) variant details
- p.Arg91Ter
- NCI-TCGA Cosmic COSV9986
- cosmic curated COSV99865
- Ensembl rs2101242758
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available