R7* (p.Arg7Ter) variant of RB1 (P06400)
R7* (p.Arg7Ter) in RB1 (P06400) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- cosmic curated COSV99924
- TOPMed rs1952051704
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available